Canonical Allele Identifier: CA381515834

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288577A>G (hg19) ; chr11:g.67521106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521106A>G , CM000673.2:g.67521106A>G	GRCh38
NC_000011.9:g.67288577A>G , CM000673.1:g.67288577A>G	GRCh37
NC_000011.8:g.67045153A>G	NCBI36
NG_032982.1:g.7323T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.298T>C MANE Select	ENSP00000294288.4:p.Cys100Arg
ENST00000545205.2:c.*83T>C	ENSP00000446180.1:n.*83T>C
ENST00000636477.1:c.250T>C	ENSP00000490746.1:p.Cys84Arg
ENST00000294288.4:c.298T>C	ENSP00000294288.4:p.Cys100Arg
ENST00000353903.9:c.127T>C	ENSP00000312037.4:p.Cys43Arg
ENST00000545205.1:c.*83T>C	ENSP00000446180.1:n.*83T>C
NM_016366.2:c.298T>C	NP_057450.2:p.Cys100Arg
XM_005274046.1:c.316T>C	XP_005274103.1:p.Cys106Arg
NM_001318496.1:c.316T>C	NP_001305425.1:p.Cys106Arg
NM_001318496.2:c.316T>C	NP_001305425.1:p.Cys106Arg
NM_016366.3:c.298T>C MANE Select	NP_057450.2:p.Cys100Arg