Canonical Allele Identifier: CA378116644
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99817386T>A , CM000672.2:g.99817386T>A GRCh38
NC_000010.10:g.101577143T>A , CM000672.1:g.101577143T>A GRCh37
NC_000010.9:g.101567133T>A NCBI36
NG_011798.1:g.39681T>A
NG_011798.2:g.39789T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.2173T>A MANE Select ENSP00000497274.1:p.Phe725Ile
ENST00000370449.8:c.2173T>A ENSP00000359478.4:p.Phe725Ile
NM_000392.4:c.2173T>A NP_000383.1:p.Phe725Ile
XM_006717630.2:c.1477T>A XP_006717693.1:p.Phe493Ile
XM_006717631.2:c.2173T>A XP_006717694.1:p.Phe725Ile
XM_011539291.1:c.2173T>A XP_011537593.1:p.Phe725Ile
XR_945604.1:n.2362T>A
XR_945605.1:n.2364T>A
NM_000392.5:c.2173T>A MANE Select NP_000383.2:p.Phe725Ile
XM_006717630.3:c.1477T>A XP_006717693.1:p.Phe493Ile
XM_006717631.4:c.2173T>A XP_006717694.1:p.Phe725Ile
XM_011539291.3:c.2173T>A XP_011537593.1:p.Phe725Ile
XM_017015675.2:c.2173T>A XP_016871164.1:p.Phe725Ile
XR_945604.3:n.2416T>A
XR_945605.3:n.2416T>A