Canonical Allele Identifier: CA378127931

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 2690803
• ClinVar RCV Id: RCV003486349
• gnomAD v4: 10-99845661-C-A
• MyVariant Identifiers: chr10:g.101605418C>A (hg19) ; chr10:g.99845661C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845661C>A , CM000672.2:g.99845661C>A	GRCh38
NC_000010.10:g.101605418C>A , CM000672.1:g.101605418C>A	GRCh37
NC_000010.9:g.101595408C>A	NCBI36
NG_011798.1:g.67956C>A
NG_011798.2:g.68064C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.4025C>A MANE Select	ENSP00000497274.1:p.Ser1342Tyr
ENST00000649459.1:n.373C>A
ENST00000370449.8:c.4025C>A	ENSP00000359478.4:p.Ser1342Tyr
NM_000392.4:c.4025C>A	NP_000383.1:p.Ser1342Tyr
XM_006717630.2:c.3329C>A	XP_006717693.1:p.Ser1110Tyr
XR_945604.1:n.4177-22C>A
XR_945605.1:n.4089C>A
NM_000392.5:c.4025C>A MANE Select	NP_000383.2:p.Ser1342Tyr
XM_006717630.3:c.3329C>A	XP_006717693.1:p.Ser1110Tyr
XR_945604.3:n.4231-22C>A
XR_945605.3:n.4141C>A