Canonical Allele Identifier: CA471132008
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 502062
ClinVar RCV Id: RCV000591263
dbSNP Id: rs1554853606

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836201C>G , CM000672.2:g.99836201C>G GRCh38
NC_000010.10:g.101595958C>G , CM000672.1:g.101595958C>G GRCh37
NC_000010.9:g.101585948C>G NCBI36
NG_011798.1:g.58496C>G
NG_011798.2:g.58604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3525C>G MANE Select ENSP00000497274.1:p.Ala1175=
ENST00000370449.8:c.3525C>G ENSP00000359478.4:p.Ala1175=
NM_000392.4:c.3525C>G NP_000383.1:p.Ala1175=
XM_006717630.2:c.2829C>G XP_006717693.1:p.Ala943=
XR_945604.1:n.3714C>G
XR_945605.1:n.3716C>G
NM_000392.5:c.3525C>G MANE Select NP_000383.2:p.Ala1175=
XM_006717630.3:c.2829C>G XP_006717693.1:p.Ala943=
XR_945604.3:n.3768C>G
XR_945605.3:n.3768C>G