Canonical Allele Identifier: CA6142500
Gene: CABP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67521077G>A , CM000673.2:g.67521077G>A GRCh38
NC_000011.9:g.67288548G>A , CM000673.1:g.67288548G>A GRCh37
NC_000011.8:g.67045124G>A NCBI36
NG_032982.1:g.7352C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000294288.5:c.327C>T MANE Select ENSP00000294288.4:p.Thr109=
ENST00000545205.2:c.*112C>T ENSP00000446180.1:n.*112C>T
ENST00000636477.1:c.279C>T ENSP00000490746.1:p.Thr93=
ENST00000294288.4:c.327C>T ENSP00000294288.4:p.Thr109=
ENST00000353903.9:c.156C>T ENSP00000312037.4:p.Thr52=
ENST00000545205.1:c.*112C>T ENSP00000446180.1:n.*112C>T
NM_016366.2:c.327C>T NP_057450.2:p.Thr109=
XM_005274046.1:c.345C>T XP_005274103.1:p.Thr115=
NM_001318496.1:c.345C>T NP_001305425.1:p.Thr115=
NM_001318496.2:c.345C>T NP_001305425.1:p.Thr115=
NM_016366.3:c.327C>T MANE Select NP_057450.2:p.Thr109=