Canonical Allele Identifier: CA372795776
Gene: KCNV2 HGNC NCBI

Linked Data

gnomAD v4: 9-2717873-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717873G>A , CM000671.2:g.2717873G>A GRCh38
NC_000009.11:g.2717873G>A , CM000671.1:g.2717873G>A GRCh37
NC_000009.10:g.2707873G>A NCBI36
NG_012181.1:g.5348G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.134G>A MANE Select ENSP00000371514.3:p.Gly45Asp
ENST00000382082.3:c.134G>A ENSP00000371514.3:p.Gly45Asp
NM_133497.3:c.134G>A NP_598004.1:p.Gly45Asp
XR_929202.1:n.635G>A
XR_929203.1:n.635G>A
NM_133497.4:c.134G>A MANE Select NP_598004.1:p.Gly45Asp