Canonical Allele Identifier: CA4965326
Gene: KCNV2 HGNC NCBI

Linked Data

dbSNP Id: rs766813964
gnomAD v2: 9-2717874-C-T
gnomAD v4: 9-2717874-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717874C>T , CM000671.2:g.2717874C>T GRCh38
NC_000009.11:g.2717874C>T , CM000671.1:g.2717874C>T GRCh37
NC_000009.10:g.2707874C>T NCBI36
NG_012181.1:g.5349C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.135C>T MANE Select ENSP00000371514.3:p.Gly45=
ENST00000382082.3:c.135C>T ENSP00000371514.3:p.Gly45=
NM_133497.3:c.135C>T NP_598004.1:p.Gly45=
XR_929202.1:n.636C>T
XR_929203.1:n.636C>T
NM_133497.4:c.135C>T MANE Select NP_598004.1:p.Gly45=