Canonical Allele Identifier: CA5644011

Gene: ABCC2

Linked Data

• ClinVar Variation Id: 746932
• ClinVar RCV Id: RCV000923584
• dbSNP Id: rs770712734
• ExAC: 10:101605371 A / G
• gnomAD v2: 10-101605371-A-G
• gnomAD v3: 10-99845614-A-G
• gnomAD v4: 10-99845614-A-G
• MyVariant Identifiers: chr10:g.101605371A>G (hg19) ; chr10:g.99845614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.99845614A>G , CM000672.2:g.99845614A>G	GRCh38
NC_000010.10:g.101605371A>G , CM000672.1:g.101605371A>G	GRCh37
NC_000010.9:g.101595361A>G	NCBI36
NG_011798.1:g.67909A>G
NG_011798.2:g.68017A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647814.1:c.3988-10A>G MANE Select	ENSP00000497274.1:n.3988-10A>G
ENST00000649459.1:n.336-10A>G
ENST00000370449.8:c.3988-10A>G	ENSP00000359478.4:n.3988-10A>G
NM_000392.4:c.3988-10A>G	NP_000383.1:n.3988-10A>G
XM_006717630.2:c.3292-10A>G	XP_006717693.1:n.3292-10A>G
XR_945604.1:n.4177-69A>G
XR_945605.1:n.4052-10A>G
NM_000392.5:c.3988-10A>G MANE Select	NP_000383.2:n.3988-10A>G
XM_006717630.3:c.3292-10A>G	XP_006717693.1:n.3292-10A>G
XR_945604.3:n.4231-69A>G
XR_945605.3:n.4104-10A>G