Canonical Allele Identifier: CA378125176
Gene: ABCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1486717728
gnomAD v2: 10-101596028-T-A
MyVariant Identifiers: chr10:g.101596028T>A (hg19) chr10:g.99836271T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836271T>A , CM000672.2:g.99836271T>A GRCh38
NC_000010.10:g.101596028T>A , CM000672.1:g.101596028T>A GRCh37
NC_000010.9:g.101586018T>A NCBI36
NG_011798.1:g.58566T>A
NG_011798.2:g.58674T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3595T>A MANE Select ENSP00000497274.1:p.Ser1199Thr
ENST00000370449.8:c.3595T>A ENSP00000359478.4:p.Ser1199Thr
NM_000392.4:c.3595T>A NP_000383.1:p.Ser1199Thr
XM_006717630.2:c.2899T>A XP_006717693.1:p.Ser967Thr
XR_945604.1:n.3784T>A
XR_945605.1:n.3786T>A
NM_000392.5:c.3595T>A MANE Select NP_000383.2:p.Ser1199Thr
XM_006717630.3:c.2899T>A XP_006717693.1:p.Ser967Thr
XR_945604.3:n.3838T>A
XR_945605.3:n.3838T>A
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