Canonical Allele Identifier: CA471135688

Gene: ABCC2

Linked Data

• dbSNP Id: rs1273093491
• gnomAD v3: 10-99845758-A-G
• gnomAD v4: 10-99845758-A-G
• MyVariant Identifiers: chr10:g.101605515A>G (hg19) ; chr10:g.99845758A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845758A>G , CM000672.2:g.99845758A>G	GRCh38
NC_000010.10:g.101605515A>G , CM000672.1:g.101605515A>G	GRCh37
NC_000010.9:g.101595505A>G	NCBI36
NG_011798.1:g.68053A>G
NG_011798.2:g.68161A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.4122A>G MANE Select	ENSP00000497274.1:p.Arg1374=
ENST00000648523.1:c.10A>G
ENST00000649459.1:n.470A>G
ENST00000370449.8:c.4122A>G	ENSP00000359478.4:p.Arg1374=
NM_000392.4:c.4122A>G	NP_000383.1:p.Arg1374=
XM_006717630.2:c.3426A>G	XP_006717693.1:p.Arg1142=
XR_945604.1:n.4252A>G
XR_945605.1:n.4186A>G
NM_000392.5:c.4122A>G MANE Select	NP_000383.2:p.Arg1374=
XM_006717630.3:c.3426A>G	XP_006717693.1:p.Arg1142=
XR_945604.3:n.4306A>G
XR_945605.3:n.4238A>G