Canonical Allele Identifier: CA6142587
Gene: CABP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67522635C>T , CM000673.2:g.67522635C>T GRCh38
NC_000011.9:g.67290106C>T , CM000673.1:g.67290106C>T GRCh37
NC_000011.8:g.67046682C>T NCBI36
NG_032982.1:g.5794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294288.5:c.124G>A MANE Select ENSP00000294288.4:p.Ala42Thr
ENST00000545205.2:c.124G>A ENSP00000446180.1:p.Ala42Thr
ENST00000636477.1:c.166-653G>A ENSP00000490746.1:n.166-653G>A
ENST00000294288.4:c.124G>A ENSP00000294288.4:p.Ala42Thr
ENST00000353903.9:c.42+650G>A ENSP00000312037.4:n.42+650G>A
ENST00000545205.1:c.124G>A ENSP00000446180.1:p.Ala42Thr
NM_016366.2:c.124G>A NP_057450.2:p.Ala42Thr
XM_005274046.1:c.138G>A XP_005274103.1:p.Pro46=
NM_001318496.1:c.138G>A NP_001305425.1:p.Pro46=
NM_001318496.2:c.138G>A NP_001305425.1:p.Pro46=
NM_016366.3:c.124G>A MANE Select NP_057450.2:p.Ala42Thr