Canonical Allele Identifier: CA378120314

Gene: ABCC2

Linked Data

• dbSNP Id: rs1258429983
• gnomAD v2: 10-101590067-A-G
• gnomAD v4: 10-99830310-A-G
• MyVariant Identifiers: chr10:g.101590067A>G (hg19) ; chr10:g.99830310A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830310A>G , CM000672.2:g.99830310A>G	GRCh38
NC_000010.10:g.101590067A>G , CM000672.1:g.101590067A>G	GRCh37
NC_000010.9:g.101580057A>G	NCBI36
NG_011798.1:g.52605A>G
NG_011798.2:g.52713A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2624A>G MANE Select	ENSP00000497274.1:p.His875Arg
ENST00000370449.8:c.2624A>G	ENSP00000359478.4:p.His875Arg
NM_000392.4:c.2624A>G	NP_000383.1:p.His875Arg
XM_006717630.2:c.1928A>G	XP_006717693.1:p.His643Arg
XM_006717631.2:c.*51A>G	XP_006717694.1:n.*51A>G
XM_011539291.1:c.2624A>G	XP_011537593.1:p.His875Arg
XR_945604.1:n.2813A>G
XR_945605.1:n.2815A>G
NM_000392.5:c.2624A>G MANE Select	NP_000383.2:p.His875Arg
XM_006717630.3:c.1928A>G	XP_006717693.1:p.His643Arg
XM_006717631.4:c.*51A>G	XP_006717694.1:n.*51A>G
XM_011539291.3:c.2624A>G	XP_011537593.1:p.His875Arg
XR_945604.3:n.2867A>G
XR_945605.3:n.2867A>G