Canonical Allele Identifier: CA6142398

Gene: CABP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67519910C>T , CM000673.2:g.67519910C>T	GRCh38
NC_000011.9:g.67287381C>T , CM000673.1:g.67287381C>T	GRCh37
NC_000011.8:g.67043957C>T	NCBI36
NG_032982.1:g.8519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.520G>A MANE Select	ENSP00000294288.4:p.Val174Met
ENST00000545205.2:c.*305G>A	ENSP00000446180.1:n.*305G>A
ENST00000636477.1:c.472G>A	ENSP00000490746.1:p.Val158Met
ENST00000294288.4:c.520G>A	ENSP00000294288.4:p.Val174Met
ENST00000353903.9:c.349G>A	ENSP00000312037.4:p.Val117Met
ENST00000545205.1:c.*305G>A	ENSP00000446180.1:n.*305G>A
NM_016366.2:c.520G>A	NP_057450.2:p.Val174Met
XM_005274046.1:c.538G>A	XP_005274103.1:p.Val180Met
NM_001318496.1:c.538G>A	NP_001305425.1:p.Val180Met
NM_001318496.2:c.538G>A	NP_001305425.1:p.Val180Met
NM_016366.3:c.520G>A MANE Select	NP_057450.2:p.Val174Met