Canonical Allele Identifier: CA4965905

Gene: KCNV2 PUM3

Linked Data

• ClinVar Variation Id: 37247
• ClinVar RCV Id: RCV000030809 ; RCV001075668 ; RCV001245357 ; RCV001270117 ; RCV003430644
• dbSNP Id: rs149648640
• ExAC: 9:2729470 G / A
• gnomAD v2: 9-2729470-G-A
• gnomAD v3: 9-2729470-G-A
• gnomAD v4: 9-2729470-G-A
• MyVariant Identifiers: chr9:g.2729470G>A (hg19) ; chr9:g.2729470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2729470G>A , CM000671.2:g.2729470G>A	GRCh38
NC_000009.11:g.2729470G>A , CM000671.1:g.2729470G>A	GRCh37
NC_000009.10:g.2719470G>A	NCBI36
NG_012181.1:g.16945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382082.4:c.1381G>A (KCNV2) MANE Select	ENSP00000371514.3:p.Gly461Arg
ENST00000382082.3:c.1381G>A (KCNV2)	ENSP00000371514.3:p.Gly461Arg
ENST00000490444.2:c.277-8938C>T (PUM3)	ENSP00000474467.1:n.277-8938C>T
NM_133497.3:c.1381G>A (KCNV2)	NP_598004.1:p.Gly461Arg
XR_929202.1:n.2026G>A (KCNV2)
NM_133497.4:c.1381G>A (KCNV2) MANE Select	NP_598004.1:p.Gly461Arg