Canonical Allele Identifier: CA372795770
Gene: KCNV2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717870A>T , CM000671.2:g.2717870A>T GRCh38
NC_000009.11:g.2717870A>T , CM000671.1:g.2717870A>T GRCh37
NC_000009.10:g.2707870A>T NCBI36
NG_012181.1:g.5345A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.131A>T MANE Select ENSP00000371514.3:p.His44Leu
ENST00000382082.3:c.131A>T ENSP00000371514.3:p.His44Leu
NM_133497.3:c.131A>T NP_598004.1:p.His44Leu
XR_929202.1:n.632A>T
XR_929203.1:n.632A>T
NM_133497.4:c.131A>T MANE Select NP_598004.1:p.His44Leu