Canonical Allele Identifier: CA378126743

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 3031773
• ClinVar RCV Id: RCV003899515
• dbSNP Id: rs2038986330
• gnomAD v4: 10-99844371-G-A
• MyVariant Identifiers: chr10:g.101604128G>A (hg19) ; chr10:g.99844371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99844371G>A , CM000672.2:g.99844371G>A	GRCh38
NC_000010.10:g.101604128G>A , CM000672.1:g.101604128G>A	GRCh37
NC_000010.9:g.101594118G>A	NCBI36
NG_011798.1:g.66666G>A
NG_011798.2:g.66774G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3893G>A MANE Select	ENSP00000497274.1:p.Gly1298Asp
ENST00000649459.1:n.241G>A
ENST00000370449.8:c.3893G>A	ENSP00000359478.4:p.Gly1298Asp
NM_000392.4:c.3893G>A	NP_000383.1:p.Gly1298Asp
XM_006717630.2:c.3197G>A	XP_006717693.1:p.Gly1066Asp
XR_945604.1:n.4082G>A
XR_945605.1:n.3957G>A
NM_000392.5:c.3893G>A MANE Select	NP_000383.2:p.Gly1298Asp
XM_006717630.3:c.3197G>A	XP_006717693.1:p.Gly1066Asp
XR_945604.3:n.4136G>A
XR_945605.3:n.4009G>A