Canonical Allele Identifier: CA119599
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8416
ClinVar RCV Id: RCV000008927
dbSNP Id: rs72558202

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845781A>G , CM000672.2:g.99845781A>G GRCh38
NC_000010.10:g.101605538A>G , CM000672.1:g.101605538A>G GRCh37
NC_000010.9:g.101595528A>G NCBI36
NG_011798.1:g.68076A>G
NG_011798.2:g.68184A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4145A>G MANE Select ENSP00000497274.1:p.Gln1382Arg
ENST00000648523.1:n.33A>G
ENST00000649459.1:n.493A>G
ENST00000370449.8:c.4145A>G ENSP00000359478.4:p.Gln1382Arg
NM_000392.4:c.4145A>G NP_000383.1:p.Gln1382Arg
XM_006717630.2:c.3449A>G XP_006717693.1:p.Gln1150Arg
XR_945604.1:n.4275A>G
XR_945605.1:n.4209A>G
NM_000392.5:c.4145A>G MANE Select NP_000383.2:p.Gln1382Arg
XM_006717630.3:c.3449A>G XP_006717693.1:p.Gln1150Arg
XR_945604.3:n.4329A>G
XR_945605.3:n.4261A>G