Canonical Allele Identifier: CA5644037

Gene: ABCC2

Linked Data

• dbSNP Id: rs773345306
• ExAC: 10:101605514 G / A
• gnomAD v2: 10-101605514-G-A
• gnomAD v4: 10-99845757-G-A
• COSMIC: COSM3414607
• MyVariant Identifiers: chr10:g.101605514G>A (hg19) ; chr10:g.99845757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845757G>A , CM000672.2:g.99845757G>A	GRCh38
NC_000010.10:g.101605514G>A , CM000672.1:g.101605514G>A	GRCh37
NC_000010.9:g.101595504G>A	NCBI36
NG_011798.1:g.68052G>A
NG_011798.2:g.68160G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4121G>A MANE Select	ENSP00000497274.1:p.Arg1374Gln
ENST00000648523.1:c.9G>A
ENST00000649459.1:n.469G>A
ENST00000370449.8:c.4121G>A	ENSP00000359478.4:p.Arg1374Gln
NM_000392.4:c.4121G>A	NP_000383.1:p.Arg1374Gln
XM_006717630.2:c.3425G>A	XP_006717693.1:p.Arg1142Gln
XR_945604.1:n.4251G>A
XR_945605.1:n.4185G>A
NM_000392.5:c.4121G>A MANE Select	NP_000383.2:p.Arg1374Gln
XM_006717630.3:c.3425G>A	XP_006717693.1:p.Arg1142Gln
XR_945604.3:n.4305G>A
XR_945605.3:n.4237G>A