Canonical Allele Identifier: CA5644192
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 724590
ClinVar RCV Id: RCV000898527 RCV001107121
dbSNP Id: rs533470370
ExAC: 10:101611318 A / C
gnomAD v2: 10-101611318-A-C
gnomAD v3: 10-99851561-A-C
gnomAD v4: 10-99851561-A-C
MyVariant Identifiers: chr10:g.101611318A>C (hg19) chr10:g.99851561A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99851561A>C , CM000672.2:g.99851561A>C GRCh38
NC_000010.10:g.101611318A>C , CM000672.1:g.101611318A>C GRCh37
NC_000010.9:g.101601308A>C NCBI36
NG_011798.1:g.73856A>C
NG_011798.2:g.73964A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4568A>C MANE Select ENSP00000497274.1:p.Gln1523Pro
ENST00000648523.1:c.638A>C
ENST00000370449.8:c.4568A>C ENSP00000359478.4:p.Gln1523Pro
NM_000392.4:c.4568A>C NP_000383.1:p.Gln1523Pro
XM_006717630.2:c.3872A>C XP_006717693.1:p.Gln1291Pro
NM_000392.5:c.4568A>C MANE Select NP_000383.2:p.Gln1523Pro
XM_006717630.3:c.3872A>C XP_006717693.1:p.Gln1291Pro
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