Canonical Allele Identifier: CA372796096
Gene: KCNV2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717972C>G , CM000671.2:g.2717972C>G GRCh38
NC_000009.11:g.2717972C>G , CM000671.1:g.2717972C>G GRCh37
NC_000009.10:g.2707972C>G NCBI36
NG_012181.1:g.5447C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.233C>G MANE Select ENSP00000371514.3:p.Ala78Gly
ENST00000382082.3:c.233C>G ENSP00000371514.3:p.Ala78Gly
NM_133497.3:c.233C>G NP_598004.1:p.Ala78Gly
XR_929202.1:n.734C>G
XR_929203.1:n.734C>G
NM_133497.4:c.233C>G MANE Select NP_598004.1:p.Ala78Gly