Canonical Allele Identifier: CA378125119
Gene: ABCC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.99836260A>T , CM000672.2:g.99836260A>T GRCh38
NC_000010.10:g.101596017A>T , CM000672.1:g.101596017A>T GRCh37
NC_000010.9:g.101586007A>T NCBI36
NG_011798.1:g.58555A>T
NG_011798.2:g.58663A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647814.1:c.3584A>T MANE Select ENSP00000497274.1:p.Lys1195Ile
ENST00000370449.8:c.3584A>T ENSP00000359478.4:p.Lys1195Ile
NM_000392.4:c.3584A>T NP_000383.1:p.Lys1195Ile
XM_006717630.2:c.2888A>T XP_006717693.1:p.Lys963Ile
XR_945604.1:n.3773A>T
XR_945605.1:n.3775A>T
NM_000392.5:c.3584A>T MANE Select NP_000383.2:p.Lys1195Ile
XM_006717630.3:c.2888A>T XP_006717693.1:p.Lys963Ile
XR_945604.3:n.3827A>T
XR_945605.3:n.3827A>T