Canonical Allele Identifier: CA378128108

Gene: ABCC2

Linked Data

• gnomAD v4: 10-99845696-G-A
• MyVariant Identifiers: chr10:g.101605453G>A (hg19) ; chr10:g.99845696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845696G>A , CM000672.2:g.99845696G>A	GRCh38
NC_000010.10:g.101605453G>A , CM000672.1:g.101605453G>A	GRCh37
NC_000010.9:g.101595443G>A	NCBI36
NG_011798.1:g.67991G>A
NG_011798.2:g.68099G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647814.1:c.4060G>A MANE Select	ENSP00000497274.1:p.Ala1354Thr
ENST00000649459.1:n.408G>A
ENST00000370449.8:c.4060G>A	ENSP00000359478.4:p.Ala1354Thr
NM_000392.4:c.4060G>A	NP_000383.1:p.Ala1354Thr
XM_006717630.2:c.3364G>A	XP_006717693.1:p.Ala1122Thr
XR_945604.1:n.4190G>A
XR_945605.1:n.4124G>A
NM_000392.5:c.4060G>A MANE Select	NP_000383.2:p.Ala1354Thr
XM_006717630.3:c.3364G>A	XP_006717693.1:p.Ala1122Thr
XR_945604.3:n.4244G>A
XR_945605.3:n.4176G>A