Canonical Allele Identifier: CA378128495

Gene: ABCC2

Linked Data

• MyVariant Identifiers: chr10:g.101605523T>A (hg19) ; chr10:g.99845766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845766T>A , CM000672.2:g.99845766T>A	GRCh38
NC_000010.10:g.101605523T>A , CM000672.1:g.101605523T>A	GRCh37
NC_000010.9:g.101595513T>A	NCBI36
NG_011798.1:g.68061T>A
NG_011798.2:g.68169T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.4130T>A MANE Select	ENSP00000497274.1:p.Leu1377Gln
ENST00000648523.1:c.18T>A
ENST00000649459.1:n.478T>A
ENST00000370449.8:c.4130T>A	ENSP00000359478.4:p.Leu1377Gln
NM_000392.4:c.4130T>A	NP_000383.1:p.Leu1377Gln
XM_006717630.2:c.3434T>A	XP_006717693.1:p.Leu1145Gln
XR_945604.1:n.4260T>A
XR_945605.1:n.4194T>A
NM_000392.5:c.4130T>A MANE Select	NP_000383.2:p.Leu1377Gln
XM_006717630.3:c.3434T>A	XP_006717693.1:p.Leu1145Gln
XR_945604.3:n.4314T>A
XR_945605.3:n.4246T>A