Canonical Allele Identifier: CA381515762

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288564C>T (hg19) ; chr11:g.67521093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521093C>T , CM000673.2:g.67521093C>T	GRCh38
NC_000011.9:g.67288564C>T , CM000673.1:g.67288564C>T	GRCh37
NC_000011.8:g.67045140C>T	NCBI36
NG_032982.1:g.7336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.311G>A MANE Select	ENSP00000294288.4:p.Gly104Asp
ENST00000545205.2:c.*96G>A	ENSP00000446180.1:n.*96G>A
ENST00000636477.1:c.263G>A	ENSP00000490746.1:p.Gly88Asp
ENST00000294288.4:c.311G>A	ENSP00000294288.4:p.Gly104Asp
ENST00000353903.9:c.140G>A	ENSP00000312037.4:p.Gly47Asp
ENST00000545205.1:c.*96G>A	ENSP00000446180.1:n.*96G>A
NM_016366.2:c.311G>A	NP_057450.2:p.Gly104Asp
XM_005274046.1:c.329G>A	XP_005274103.1:p.Gly110Asp
NM_001318496.1:c.329G>A	NP_001305425.1:p.Gly110Asp
NM_001318496.2:c.329G>A	NP_001305425.1:p.Gly110Asp
NM_016366.3:c.311G>A MANE Select	NP_057450.2:p.Gly104Asp