Canonical Allele Identifier: CA378125136

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99836263-G-A
• MyVariant Identifiers: chr10:g.101596020G>A (hg19) ; chr10:g.99836263G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99836263G>A , CM000672.2:g.99836263G>A	GRCh38
NC_000010.10:g.101596020G>A , CM000672.1:g.101596020G>A	GRCh37
NC_000010.9:g.101586010G>A	NCBI36
NG_011798.1:g.58558G>A
NG_011798.2:g.58666G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3587G>A MANE Select	ENSP00000497274.1:p.Cys1196Tyr
ENST00000370449.8:c.3587G>A	ENSP00000359478.4:p.Cys1196Tyr
NM_000392.4:c.3587G>A	NP_000383.1:p.Cys1196Tyr
XM_006717630.2:c.2891G>A	XP_006717693.1:p.Cys964Tyr
XR_945604.1:n.3776G>A
XR_945605.1:n.3778G>A
NM_000392.5:c.3587G>A MANE Select	NP_000383.2:p.Cys1196Tyr
XM_006717630.3:c.2891G>A	XP_006717693.1:p.Cys964Tyr
XR_945604.3:n.3830G>A
XR_945605.3:n.3830G>A