Canonical Allele Identifier: CA475382635
Gene: CABP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.67288515G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67521044G>T , CM000673.2:g.67521044G>T GRCh38
NC_000011.9:g.67288515G>T , CM000673.1:g.67288515G>T GRCh37
NC_000011.8:g.67045091G>T NCBI36
NG_032982.1:g.7385C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000294288.5:c.360C>A MANE Select ENSP00000294288.4:p.Ile120=
ENST00000545205.2:c.*145C>A ENSP00000446180.1:n.*145C>A
ENST00000636477.1:c.312C>A ENSP00000490746.1:p.Ile104=
ENST00000294288.4:c.360C>A ENSP00000294288.4:p.Ile120=
ENST00000353903.9:c.189C>A ENSP00000312037.4:p.Ile63=
ENST00000545205.1:c.*145C>A ENSP00000446180.1:n.*145C>A
NM_016366.2:c.360C>A NP_057450.2:p.Ile120=
XM_005274046.1:c.378C>A XP_005274103.1:p.Ile126=
NM_001318496.1:c.378C>A NP_001305425.1:p.Ile126=
NM_001318496.2:c.378C>A NP_001305425.1:p.Ile126=
NM_016366.3:c.360C>A MANE Select NP_057450.2:p.Ile120=