Canonical Allele Identifier: CA5643978
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3128025
ClinVar RCV Id: RCV004419928
dbSNP Id: rs371697049
ExAC: 10:101604102 G / T
gnomAD v2: 10-101604102-G-T
gnomAD v3: 10-99844345-G-T
gnomAD v4: 10-99844345-G-T
MyVariant Identifiers: chr10:g.101604102G>T (hg19) chr10:g.99844345G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99844345G>T , CM000672.2:g.99844345G>T GRCh38
NC_000010.10:g.101604102G>T , CM000672.1:g.101604102G>T GRCh37
NC_000010.9:g.101594092G>T NCBI36
NG_011798.1:g.66640G>T
NG_011798.2:g.66748G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3867G>T MANE Select ENSP00000497274.1:p.Arg1289Ser
ENST00000649459.1:n.215G>T
ENST00000370449.8:c.3867G>T ENSP00000359478.4:p.Arg1289Ser
NM_000392.4:c.3867G>T NP_000383.1:p.Arg1289Ser
XM_006717630.2:c.3171G>T XP_006717693.1:p.Arg1057Ser
XR_945604.1:n.4056G>T
XR_945605.1:n.3931G>T
NM_000392.5:c.3867G>T MANE Select NP_000383.2:p.Arg1289Ser
XM_006717630.3:c.3171G>T XP_006717693.1:p.Arg1057Ser
XR_945604.3:n.4110G>T
XR_945605.3:n.3983G>T
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