Canonical Allele Identifier: CA5644027
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290849
ClinVar RCV Id: RCV000358934 RCV003967805
dbSNP Id: rs148393425
ExAC: 10:101605464 G / C
gnomAD v2: 10-101605464-G-C
gnomAD v3: 10-99845707-G-C
gnomAD v4: 10-99845707-G-C
MyVariant Identifiers: chr10:g.101605464G>C (hg19) chr10:g.99845707G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845707G>C , CM000672.2:g.99845707G>C GRCh38
NC_000010.10:g.101605464G>C , CM000672.1:g.101605464G>C GRCh37
NC_000010.9:g.101595454G>C NCBI36
NG_011798.1:g.68002G>C
NG_011798.2:g.68110G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.4071G>C MANE Select ENSP00000497274.1:p.Gln1357His
ENST00000649459.1:n.419G>C
ENST00000370449.8:c.4071G>C ENSP00000359478.4:p.Gln1357His
NM_000392.4:c.4071G>C NP_000383.1:p.Gln1357His
XM_006717630.2:c.3375G>C XP_006717693.1:p.Gln1125His
XR_945604.1:n.4201G>C
XR_945605.1:n.4135G>C
NM_000392.5:c.4071G>C MANE Select NP_000383.2:p.Gln1357His
XM_006717630.3:c.3375G>C XP_006717693.1:p.Gln1125His
XR_945604.3:n.4255G>C
XR_945605.3:n.4187G>C
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