Canonical Allele Identifier: CA6142605

Gene: CABP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67523308G>A , CM000673.2:g.67523308G>A	GRCh38
NC_000011.9:g.67290779G>A , CM000673.1:g.67290779G>A	GRCh37
NC_000011.8:g.67047355G>A	NCBI36
NG_032982.1:g.5121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.19C>T MANE Select	ENSP00000294288.4:p.Arg7Trp
ENST00000545205.2:c.19C>T	ENSP00000446180.1:p.Arg7Trp
ENST00000636477.1:c.165+904C>T	ENSP00000490746.1:n.165+904C>T
ENST00000294288.4:c.19C>T	ENSP00000294288.4:p.Arg7Trp
ENST00000353903.9:c.19C>T	ENSP00000312037.4:p.Arg7Trp
ENST00000545205.1:c.19C>T	ENSP00000446180.1:p.Arg7Trp
NM_016366.2:c.19C>T	NP_057450.2:p.Arg7Trp
XM_005274046.1:c.33C>T	XP_005274103.1:p.Ser11=
NM_001318496.1:c.33C>T	NP_001305425.1:p.Ser11=
NM_001318496.2:c.33C>T	NP_001305425.1:p.Ser11=
NM_016366.3:c.19C>T MANE Select	NP_057450.2:p.Arg7Trp