Canonical Allele Identifier: CA119596
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8412
ClinVar RCV Id: RCV000008923 RCV000726727
dbSNP Id: rs56199535
ExAC: 10:101578577 C / T
gnomAD v2: 10-101578577-C-T
gnomAD v3: 10-99818820-C-T
gnomAD v4: 10-99818820-C-T
COSMIC: COSM5359907
MyVariant Identifiers: chr10:g.101578577C>T (hg19) chr10:g.99818820C>T (hg38)
PubMed: PMID:9425227 PMID:10053008 PMID:12942343 PMID:21044052
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99818820C>T , CM000672.2:g.99818820C>T GRCh38
NC_000010.10:g.101578577C>T , CM000672.1:g.101578577C>T GRCh37
NC_000010.9:g.101568567C>T NCBI36
NG_011798.1:g.41115C>T
NG_011798.2:g.41223C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647814.1:c.2302C>T MANE Select ENSP00000497274.1:p.Arg768Trp
ENST00000370449.8:c.2302C>T ENSP00000359478.4:p.Arg768Trp
NM_000392.4:c.2302C>T NP_000383.1:p.Arg768Trp
XM_006717630.2:c.1606C>T XP_006717693.1:p.Arg536Trp
XM_006717631.2:c.2302C>T XP_006717694.1:p.Arg768Trp
XM_011539291.1:c.2302C>T XP_011537593.1:p.Arg768Trp
XR_945604.1:n.2491C>T
XR_945605.1:n.2493C>T
NM_000392.5:c.2302C>T MANE Select NP_000383.2:p.Arg768Trp
XM_006717630.3:c.1606C>T XP_006717693.1:p.Arg536Trp
XM_006717631.4:c.2302C>T XP_006717694.1:p.Arg768Trp
XM_011539291.3:c.2302C>T XP_011537593.1:p.Arg768Trp
XM_017015675.2:c.2302C>T XP_016871164.1:p.Arg768Trp
XR_945604.3:n.2545C>T
XR_945605.3:n.2545C>T
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