Canonical Allele Identifier: CA475510869
Gene: CABP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67520096C>T , CM000673.2:g.67520096C>T GRCh38
NC_000011.9:g.67287567C>T , CM000673.1:g.67287567C>T GRCh37
NC_000011.8:g.67044143C>T NCBI36
NG_032982.1:g.8333G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294288.5:c.444G>A MANE Select ENSP00000294288.4:p.Thr148=
ENST00000545205.2:c.*229G>A ENSP00000446180.1:n.*229G>A
ENST00000636477.1:c.396G>A ENSP00000490746.1:p.Thr132=
ENST00000294288.4:c.444G>A ENSP00000294288.4:p.Thr148=
ENST00000353903.9:c.273G>A ENSP00000312037.4:p.Thr91=
ENST00000545205.1:c.*229G>A ENSP00000446180.1:n.*229G>A
NM_016366.2:c.444G>A NP_057450.2:p.Thr148=
XM_005274046.1:c.462G>A XP_005274103.1:p.Thr154=
NM_001318496.1:c.462G>A NP_001305425.1:p.Thr154=
NM_001318496.2:c.462G>A NP_001305425.1:p.Thr154=
NM_016366.3:c.444G>A MANE Select NP_057450.2:p.Thr148=