Canonical Allele Identifier: CA378116517

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99817357-T-A
• MyVariant Identifiers: chr10:g.101577114T>A (hg19) ; chr10:g.99817357T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99817357T>A , CM000672.2:g.99817357T>A	GRCh38
NC_000010.10:g.101577114T>A , CM000672.1:g.101577114T>A	GRCh37
NC_000010.9:g.101567104T>A	NCBI36
NG_011798.1:g.39652T>A
NG_011798.2:g.39760T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.2144T>A MANE Select	ENSP00000497274.1:p.Ile715Lys
ENST00000370449.8:c.2144T>A	ENSP00000359478.4:p.Ile715Lys
NM_000392.4:c.2144T>A	NP_000383.1:p.Ile715Lys
XM_006717630.2:c.1448T>A	XP_006717693.1:p.Ile483Lys
XM_006717631.2:c.2144T>A	XP_006717694.1:p.Ile715Lys
XM_011539291.1:c.2144T>A	XP_011537593.1:p.Ile715Lys
XR_945604.1:n.2333T>A
XR_945605.1:n.2335T>A
NM_000392.5:c.2144T>A MANE Select	NP_000383.2:p.Ile715Lys
XM_006717630.3:c.1448T>A	XP_006717693.1:p.Ile483Lys
XM_006717631.4:c.2144T>A	XP_006717694.1:p.Ile715Lys
XM_011539291.3:c.2144T>A	XP_011537593.1:p.Ile715Lys
XM_017015675.2:c.2144T>A	XP_016871164.1:p.Ile715Lys
XR_945604.3:n.2387T>A
XR_945605.3:n.2387T>A