Canonical Allele Identifier: CA5643566
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 501698
ClinVar RCV Id: RCV000593589 RCV003411442
dbSNP Id: rs767142650
ExAC: 10:101590175 G / A
gnomAD v2: 10-101590175-G-A
gnomAD v3: 10-99830418-G-A
gnomAD v4: 10-99830418-G-A
COSMIC: COSM1345246
MyVariant Identifiers: chr10:g.101590175G>A (hg19) chr10:g.99830418G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99830418G>A , CM000672.2:g.99830418G>A GRCh38
NC_000010.10:g.101590175G>A , CM000672.1:g.101590175G>A GRCh37
NC_000010.9:g.101580165G>A NCBI36
NG_011798.1:g.52713G>A
NG_011798.2:g.52821G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2732G>A MANE Select ENSP00000497274.1:p.Arg911Gln
ENST00000370449.8:c.2732G>A ENSP00000359478.4:p.Arg911Gln
NM_000392.4:c.2732G>A NP_000383.1:p.Arg911Gln
XM_006717630.2:c.2036G>A XP_006717693.1:p.Arg679Gln
XM_011539291.1:c.2732G>A XP_011537593.1:p.Arg911Gln
XR_945604.1:n.2921G>A
XR_945605.1:n.2923G>A
NM_000392.5:c.2732G>A MANE Select NP_000383.2:p.Arg911Gln
XM_006717630.3:c.2036G>A XP_006717693.1:p.Arg679Gln
XM_011539291.3:c.2732G>A XP_011537593.1:p.Arg911Gln
XR_945604.3:n.2975G>A
XR_945605.3:n.2975G>A
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