Canonical Allele Identifier: CA395196482

Gene: NPIPA2 NPIPA1 NPIPA3

Linked Data

• dbSNP Id: rs1962393986
• gnomAD v4: 16-14765126-A-G
• MyVariant Identifiers: chr16:g.14858983A>G (hg19) ; chr16:g.14765126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.14765126A>G , CM000678.2:g.14765126A>G	GRCh38
NC_000016.9:g.14858983A>G , CM000678.1:g.14858983A>G	GRCh37
NC_000016.8:g.14766484A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529166.6:c.823A>G (NPIPA2) MANE Select	ENSP00000432029.1:p.Ile275Val
ENST00000529166.5:c.823A>G (NPIPA2)	ENSP00000432029.1:p.Ile275Val
ENST00000553201.1:c.766A>G (NPIPA2)	ENSP00000446882.1:p.Ile256Val
ENST00000618714.4:c.63+14251A>G (NPIPA1)	ENSP00000484994.1:n.63+14251A>G
ENST00000619019.3:c.902-136A>G (NPIPA3)	ENSP00000479725.1:n.902-136A>G
ENST00000621766.4:c.766A>G (NPIPA3)	ENSP00000483111.1:p.Ile256Val
NM_001277324.1:c.766A>G (NPIPA2)	NP_001264253.1:p.Ile256Val
XM_005255489.2:c.766A>G (NPIPA2)	XP_005255546.1:p.Ile256Val
XR_933118.1:n.168+1276T>C
XR_933119.1:n.168+1276T>C
XR_933120.1:n.168+1276T>C
XM_024450381.1:c.910A>G (NPIPA2)	XP_024306149.1:p.Ile304Val
XM_024450382.1:c.910A>G (NPIPA2)	XP_024306150.1:p.Ile304Val
XM_024450383.1:c.910A>G (NPIPA2)	XP_024306151.1:p.Ile304Val
XM_024450384.1:c.847A>G (NPIPA2)	XP_024306152.1:p.Ile283Val
XM_024450385.1:c.823A>G (NPIPA2)	XP_024306153.1:p.Ile275Val
XM_024450386.1:c.823A>G (NPIPA2)	XP_024306154.1:p.Ile275Val
XM_024450387.1:c.910A>G (NPIPA2)	XP_024306155.1:p.Ile304Val
XM_024450388.1:c.778A>G (NPIPA2)	XP_024306156.1:p.Ile260Val
XR_933118.2:n.168+1276T>C
XR_933120.2:n.168+1276T>C
NM_001277324.3:c.766A>G (NPIPA2)	NP_001264253.1:p.Ile256Val
NM_001395485.2:c.823A>G (NPIPA2) MANE Select	NP_001382414.1:p.Ile275Val
NM_001395486.2:c.823A>G (NPIPA2)	NP_001382415.1:p.Ile275Val