Canonical Allele Identifier: CA378116850

Gene: ABCC2

Linked Data

• dbSNP Id: rs1245496080
• gnomAD v2: 10-101577189-T-A
• gnomAD v3: 10-99817432-T-A
• gnomAD v4: 10-99817432-T-A
• MyVariant Identifiers: chr10:g.101577189T>A (hg19) ; chr10:g.99817432T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817432T>A , CM000672.2:g.99817432T>A	GRCh38
NC_000010.10:g.101577189T>A , CM000672.1:g.101577189T>A	GRCh37
NC_000010.9:g.101567179T>A	NCBI36
NG_011798.1:g.39727T>A
NG_011798.2:g.39835T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2219T>A MANE Select	ENSP00000497274.1:p.Leu740His
ENST00000370449.8:c.2219T>A	ENSP00000359478.4:p.Leu740His
NM_000392.4:c.2219T>A	NP_000383.1:p.Leu740His
XM_006717630.2:c.1523T>A	XP_006717693.1:p.Leu508His
XM_006717631.2:c.2219T>A	XP_006717694.1:p.Leu740His
XM_011539291.1:c.2219T>A	XP_011537593.1:p.Leu740His
XR_945604.1:n.2408T>A
XR_945605.1:n.2410T>A
NM_000392.5:c.2219T>A MANE Select	NP_000383.2:p.Leu740His
XM_006717630.3:c.1523T>A	XP_006717693.1:p.Leu508His
XM_006717631.4:c.2219T>A	XP_006717694.1:p.Leu740His
XM_011539291.3:c.2219T>A	XP_011537593.1:p.Leu740His
XM_017015675.2:c.2219T>A	XP_016871164.1:p.Leu740His
XR_945604.3:n.2462T>A
XR_945605.3:n.2462T>A