Canonical Allele Identifier: CA5643576

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 879803
• ClinVar RCV Id: RCV001107592
• dbSNP Id: rs368108231
• ExAC: 10:101590202 A / G
• gnomAD v2: 10-101590202-A-G
• gnomAD v4: 10-99830445-A-G
• MyVariant Identifiers: chr10:g.101590202A>G (hg19) ; chr10:g.99830445A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99830445A>G , CM000672.2:g.99830445A>G	GRCh38
NC_000010.10:g.101590202A>G , CM000672.1:g.101590202A>G	GRCh37
NC_000010.9:g.101580192A>G	NCBI36
NG_011798.1:g.52740A>G
NG_011798.2:g.52848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.2747+12A>G MANE Select	ENSP00000497274.1:n.2747+12A>G
ENST00000370449.8:c.2747+12A>G	ENSP00000359478.4:n.2747+12A>G
NM_000392.4:c.2747+12A>G	NP_000383.1:n.2747+12A>G
XM_006717630.2:c.2051+12A>G	XP_006717693.1:n.2051+12A>G
XM_011539291.1:c.2747+12A>G	XP_011537593.1:n.2747+12A>G
XR_945604.1:n.2936+12A>G
XR_945605.1:n.2938+12A>G
NM_000392.5:c.2747+12A>G MANE Select	NP_000383.2:n.2747+12A>G
XM_006717630.3:c.2051+12A>G	XP_006717693.1:n.2051+12A>G
XM_011539291.3:c.2747+12A>G	XP_011537593.1:n.2747+12A>G
XR_945604.3:n.2990+12A>G
XR_945605.3:n.2990+12A>G