Canonical Allele Identifier: CA5644017

Gene: ABCC2

Linked Data

• dbSNP Id: rs764114668
• ExAC: 10:101605398 G / C
• gnomAD v2: 10-101605398-G-C
• gnomAD v4: 10-99845641-G-C
• MyVariant Identifiers: chr10:g.101605398G>C (hg19) ; chr10:g.99845641G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845641G>C , CM000672.2:g.99845641G>C	GRCh38
NC_000010.10:g.101605398G>C , CM000672.1:g.101605398G>C	GRCh37
NC_000010.9:g.101595388G>C	NCBI36
NG_011798.1:g.67936G>C
NG_011798.2:g.68044G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.4005G>C MANE Select	ENSP00000497274.1:p.Arg1335Ser
ENST00000649459.1:n.353G>C
ENST00000370449.8:c.4005G>C	ENSP00000359478.4:p.Arg1335Ser
NM_000392.4:c.4005G>C	NP_000383.1:p.Arg1335Ser
XM_006717630.2:c.3309G>C	XP_006717693.1:p.Arg1103Ser
XR_945604.1:n.4177-42G>C
XR_945605.1:n.4069G>C
NM_000392.5:c.4005G>C MANE Select	NP_000383.2:p.Arg1335Ser
XM_006717630.3:c.3309G>C	XP_006717693.1:p.Arg1103Ser
XR_945604.3:n.4231-42G>C
XR_945605.3:n.4121G>C