Canonical Allele Identifier: CA2689257394
Gene: KCNV2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2717966_2717967insCC , CM000671.2:g.2717966_2717967insCC GRCh38
NC_000009.11:g.2717966_2717967insCC , CM000671.1:g.2717966_2717967insCC GRCh37
NC_000009.10:g.2707966_2707967insCC NCBI36
NG_012181.1:g.5441_5442insCC

Transcript Alleles

HGVS Amino-acid change
ENST00000382082.4:c.227_228insCC MANE Select ENSP00000371514.3:p.Gln76HisfsTer25
ENST00000382082.3:c.227_228insCC ENSP00000371514.3:p.Gln76HisfsTer25
NM_133497.3:c.227_228insCC NP_598004.1:p.Gln76HisfsTer25
XR_929202.1:n.728_729insCC
XR_929203.1:n.728_729insCC
NM_133497.4:c.227_228insCC MANE Select NP_598004.1:p.Gln76HisfsTer25