Canonical Allele Identifier: CA6142343

Gene: CABP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67519155C>T , CM000673.2:g.67519155C>T	GRCh38
NC_000011.9:g.67286626C>T , CM000673.1:g.67286626C>T	GRCh37
NC_000011.8:g.67043202C>T	NCBI36
NG_032982.1:g.9274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.647G>A MANE Select	ENSP00000294288.4:p.Arg216Gln
ENST00000545205.2:c.*432G>A	ENSP00000446180.1:n.*432G>A
ENST00000636477.1:c.599G>A	ENSP00000490746.1:p.Arg200Gln
ENST00000294288.4:c.647G>A	ENSP00000294288.4:p.Arg216Gln
ENST00000353903.9:c.476G>A	ENSP00000312037.4:p.Arg159Gln
ENST00000545205.1:c.*432G>A	ENSP00000446180.1:n.*432G>A
NM_016366.2:c.647G>A	NP_057450.2:p.Arg216Gln
XM_005274046.1:c.665G>A	XP_005274103.1:p.Arg222Gln
NM_001318496.1:c.665G>A	NP_001305425.1:p.Arg222Gln
NM_001318496.2:c.665G>A	NP_001305425.1:p.Arg222Gln
NM_016366.3:c.647G>A MANE Select	NP_057450.2:p.Arg216Gln