Canonical Allele Identifier: CA372799564
Gene: KCNV2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.2718563T>A (hg19) chr9:g.2718563T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718563T>A , CM000671.2:g.2718563T>A GRCh38
NC_000009.11:g.2718563T>A , CM000671.1:g.2718563T>A GRCh37
NC_000009.10:g.2708563T>A NCBI36
NG_012181.1:g.6038T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.824T>A MANE Select ENSP00000371514.3:p.Val275Glu
ENST00000382082.3:c.824T>A ENSP00000371514.3:p.Val275Glu
NM_133497.3:c.824T>A NP_598004.1:p.Val275Glu
XR_929202.1:n.1325T>A
XR_929203.1:n.1325T>A
NM_133497.4:c.824T>A MANE Select NP_598004.1:p.Val275Glu
Search 100 bp 5'
Search 100 bp 3'