Canonical Allele Identifier: CA378128427

Gene: ABCC2

Linked Data

• dbSNP Id: rs1205442801
• gnomAD v2: 10-101605511-T-A
• gnomAD v3: 10-99845754-T-A
• gnomAD v4: 10-99845754-T-A
• MyVariant Identifiers: chr10:g.101605511T>A (hg19) ; chr10:g.99845754T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845754T>A , CM000672.2:g.99845754T>A	GRCh38
NC_000010.10:g.101605511T>A , CM000672.1:g.101605511T>A	GRCh37
NC_000010.9:g.101595501T>A	NCBI36
NG_011798.1:g.68049T>A
NG_011798.2:g.68157T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.4118T>A MANE Select	ENSP00000497274.1:p.Leu1373His
ENST00000648523.1:c.6T>A
ENST00000649459.1:n.466T>A
ENST00000370449.8:c.4118T>A	ENSP00000359478.4:p.Leu1373His
NM_000392.4:c.4118T>A	NP_000383.1:p.Leu1373His
XM_006717630.2:c.3422T>A	XP_006717693.1:p.Leu1141His
XR_945604.1:n.4248T>A
XR_945605.1:n.4182T>A
NM_000392.5:c.4118T>A MANE Select	NP_000383.2:p.Leu1373His
XM_006717630.3:c.3422T>A	XP_006717693.1:p.Leu1141His
XR_945604.3:n.4302T>A
XR_945605.3:n.4234T>A