Canonical Allele Identifier: CA471135579
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 745062
ClinVar RCV Id: RCV000921566
dbSNP Id: rs1590192944
MyVariant Identifiers: chr10:g.101605440A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845683A>G , CM000672.2:g.99845683A>G GRCh38
NC_000010.10:g.101605440A>G , CM000672.1:g.101605440A>G GRCh37
NC_000010.9:g.101595430A>G NCBI36
NG_011798.1:g.67978A>G
NG_011798.2:g.68086A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4047A>G MANE Select ENSP00000497274.1:p.Arg1349=
ENST00000649459.1:n.395A>G
ENST00000370449.8:c.4047A>G ENSP00000359478.4:p.Arg1349=
NM_000392.4:c.4047A>G NP_000383.1:p.Arg1349=
XM_006717630.2:c.3351A>G XP_006717693.1:p.Arg1117=
XR_945604.1:n.4177A>G
XR_945605.1:n.4111A>G
NM_000392.5:c.4047A>G MANE Select NP_000383.2:p.Arg1349=
XM_006717630.3:c.3351A>G XP_006717693.1:p.Arg1117=
XR_945604.3:n.4231A>G
XR_945605.3:n.4163A>G