Canonical Allele Identifier: CA378128367
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845744C>G , CM000672.2:g.99845744C>G GRCh38
NC_000010.10:g.101605501C>G , CM000672.1:g.101605501C>G GRCh37
NC_000010.9:g.101595491C>G NCBI36
NG_011798.1:g.68039C>G
NG_011798.2:g.68147C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4108C>G MANE Select ENSP00000497274.1:p.Leu1370Val
ENST00000649459.1:n.456C>G
ENST00000370449.8:c.4108C>G ENSP00000359478.4:p.Leu1370Val
NM_000392.4:c.4108C>G NP_000383.1:p.Leu1370Val
XM_006717630.2:c.3412C>G XP_006717693.1:p.Leu1138Val
XR_945604.1:n.4238C>G
XR_945605.1:n.4172C>G
NM_000392.5:c.4108C>G MANE Select NP_000383.2:p.Leu1370Val
XM_006717630.3:c.3412C>G XP_006717693.1:p.Leu1138Val
XR_945604.3:n.4292C>G
XR_945605.3:n.4224C>G