Canonical Allele Identifier: CA372799535
Gene: KCNV2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2718556T>G , CM000671.2:g.2718556T>G GRCh38
NC_000009.11:g.2718556T>G , CM000671.1:g.2718556T>G GRCh37
NC_000009.10:g.2708556T>G NCBI36
NG_012181.1:g.6031T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382082.4:c.817T>G MANE Select ENSP00000371514.3:p.Ser273Ala
ENST00000382082.3:c.817T>G ENSP00000371514.3:p.Ser273Ala
NM_133497.3:c.817T>G NP_598004.1:p.Ser273Ala
XR_929202.1:n.1318T>G
XR_929203.1:n.1318T>G
NM_133497.4:c.817T>G MANE Select NP_598004.1:p.Ser273Ala