Canonical Allele Identifier: CA5643564
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 594373
ClinVar RCV Id: RCV000729644
dbSNP Id: rs149359610
ExAC: 10:101590172 G / A
gnomAD v2: 10-101590172-G-A
gnomAD v3: 10-99830415-G-A
gnomAD v4: 10-99830415-G-A
COSMIC: COSM4010959
MyVariant Identifiers: chr10:g.101590172G>A (hg19) chr10:g.99830415G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99830415G>A , CM000672.2:g.99830415G>A GRCh38
NC_000010.10:g.101590172G>A , CM000672.1:g.101590172G>A GRCh37
NC_000010.9:g.101580162G>A NCBI36
NG_011798.1:g.52710G>A
NG_011798.2:g.52818G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2729G>A MANE Select ENSP00000497274.1:p.Arg910His
ENST00000370449.8:c.2729G>A ENSP00000359478.4:p.Arg910His
NM_000392.4:c.2729G>A NP_000383.1:p.Arg910His
XM_006717630.2:c.2033G>A XP_006717693.1:p.Arg678His
XM_011539291.1:c.2729G>A XP_011537593.1:p.Arg910His
XR_945604.1:n.2918G>A
XR_945605.1:n.2920G>A
NM_000392.5:c.2729G>A MANE Select NP_000383.2:p.Arg910His
XM_006717630.3:c.2033G>A XP_006717693.1:p.Arg678His
XM_011539291.3:c.2729G>A XP_011537593.1:p.Arg910His
XR_945604.3:n.2972G>A
XR_945605.3:n.2972G>A
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