Canonical Allele Identifier: CA378126726

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99844364-A-G
• MyVariant Identifiers: chr10:g.101604121A>G (hg19) ; chr10:g.99844364A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844364A>G , CM000672.2:g.99844364A>G	GRCh38
NC_000010.10:g.101604121A>G , CM000672.1:g.101604121A>G	GRCh37
NC_000010.9:g.101594111A>G	NCBI36
NG_011798.1:g.66659A>G
NG_011798.2:g.66767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3886A>G MANE Select	ENSP00000497274.1:p.Ser1296Gly
ENST00000649459.1:n.234A>G
ENST00000370449.8:c.3886A>G	ENSP00000359478.4:p.Ser1296Gly
NM_000392.4:c.3886A>G	NP_000383.1:p.Ser1296Gly
XM_006717630.2:c.3190A>G	XP_006717693.1:p.Ser1064Gly
XR_945604.1:n.4075A>G
XR_945605.1:n.3950A>G
NM_000392.5:c.3886A>G MANE Select	NP_000383.2:p.Ser1296Gly
XM_006717630.3:c.3190A>G	XP_006717693.1:p.Ser1064Gly
XR_945604.3:n.4129A>G
XR_945605.3:n.4002A>G