Canonical Allele Identifier: CA5644020
Gene: ABCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 598357
ClinVar RCV Id: RCV000734730
dbSNP Id: rs767694433
ExAC: 10:101605432 C / T
gnomAD v2: 10-101605432-C-T
gnomAD v4: 10-99845675-C-T
MyVariant Identifiers: chr10:g.101605432C>T (hg19) chr10:g.99845675C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99845675C>T , CM000672.2:g.99845675C>T GRCh38
NC_000010.10:g.101605432C>T , CM000672.1:g.101605432C>T GRCh37
NC_000010.9:g.101595422C>T NCBI36
NG_011798.1:g.67970C>T
NG_011798.2:g.68078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.4039C>T MANE Select ENSP00000497274.1:p.Leu1347Phe
ENST00000649459.1:n.387C>T
ENST00000370449.8:c.4039C>T ENSP00000359478.4:p.Leu1347Phe
NM_000392.4:c.4039C>T NP_000383.1:p.Leu1347Phe
XM_006717630.2:c.3343C>T XP_006717693.1:p.Leu1115Phe
XR_945604.1:n.4177-8C>T
XR_945605.1:n.4103C>T
NM_000392.5:c.4039C>T MANE Select NP_000383.2:p.Leu1347Phe
XM_006717630.3:c.3343C>T XP_006717693.1:p.Leu1115Phe
XR_945604.3:n.4231-8C>T
XR_945605.3:n.4155C>T
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