Canonical Allele Identifier: CA378125173
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836270T>A , CM000672.2:g.99836270T>A GRCh38
NC_000010.10:g.101596027T>A , CM000672.1:g.101596027T>A GRCh37
NC_000010.9:g.101586017T>A NCBI36
NG_011798.1:g.58565T>A
NG_011798.2:g.58673T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3594T>A MANE Select ENSP00000497274.1:p.Phe1198Leu
ENST00000370449.8:c.3594T>A ENSP00000359478.4:p.Phe1198Leu
NM_000392.4:c.3594T>A NP_000383.1:p.Phe1198Leu
XM_006717630.2:c.2898T>A XP_006717693.1:p.Phe966Leu
XR_945604.1:n.3783T>A
XR_945605.1:n.3785T>A
NM_000392.5:c.3594T>A MANE Select NP_000383.2:p.Phe1198Leu
XM_006717630.3:c.2898T>A XP_006717693.1:p.Phe966Leu
XR_945604.3:n.3837T>A
XR_945605.3:n.3837T>A