Canonical Allele Identifier: CA378127999
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845675C>A , CM000672.2:g.99845675C>A GRCh38
NC_000010.10:g.101605432C>A , CM000672.1:g.101605432C>A GRCh37
NC_000010.9:g.101595422C>A NCBI36
NG_011798.1:g.67970C>A
NG_011798.2:g.68078C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.4039C>A MANE Select ENSP00000497274.1:p.Leu1347Ile
ENST00000649459.1:n.387C>A
ENST00000370449.8:c.4039C>A ENSP00000359478.4:p.Leu1347Ile
NM_000392.4:c.4039C>A NP_000383.1:p.Leu1347Ile
XM_006717630.2:c.3343C>A XP_006717693.1:p.Leu1115Ile
XR_945604.1:n.4177-8C>A
XR_945605.1:n.4103C>A
NM_000392.5:c.4039C>A MANE Select NP_000383.2:p.Leu1347Ile
XM_006717630.3:c.3343C>A XP_006717693.1:p.Leu1115Ile
XR_945604.3:n.4231-8C>A
XR_945605.3:n.4155C>A