NPIPB2

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001396485.1	RefSeq	NP_001383414.1	8	MANE Select
ENST00000399147.8	Ensembl	ENSP00000382101.4	8	MANE Select
NM_001355514.1	RefSeq	NP_001342443.1	4	Standard
NM_001395852.1	RefSeq	NP_001382781.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000399147
Coding exons: 8
Length: 49271
Individuals with no LoFs: 118696
Homozygous LoFs: 0
Heterozygous LoFs: 100
Defined: 118796
p: 0.000421

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.51	250	191	1.31	0.0000108	2497
Missense (PolyPhen)		91	79.412	1.1459		1208
Synonymous	-1.86	92	72.0	1.28	0.00000449	754
Loss of Function	-0.285	11	10.0	1.10	4.25e-7	174

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0023	0.0022	notable
Latino/Admixed American	0.0012	0.0012	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00020	0.00020	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP