Canonical Allele Identifier: CA381513604

Gene: CABP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67519937C>A , CM000673.2:g.67519937C>A	GRCh38
NC_000011.9:g.67287408C>A , CM000673.1:g.67287408C>A	GRCh37
NC_000011.8:g.67043984C>A	NCBI36
NG_032982.1:g.8492G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016366.3:c.493G>T MANE Select	NP_057450.2:p.Asp165Tyr
ENST00000294288.5:c.493G>T MANE Select	ENSP00000294288.4:p.Asp165Tyr
NM_001318496.1:c.511G>T	NP_001305425.1:p.Asp171Tyr
NM_001318496.2:c.511G>T	NP_001305425.1:p.Asp171Tyr
NM_016366.2:c.493G>T	NP_057450.2:p.Asp165Tyr
ENST00000294288.4:c.493G>T	ENSP00000294288.4:p.Asp165Tyr
ENST00000353903.9:c.322G>T	ENSP00000312037.4:p.Asp108Tyr
ENST00000545205.1:c.*278G>T	ENSP00000446180.1:n.*278G>T
ENST00000545205.2:c.*278G>T	ENSP00000446180.1:n.*278G>T
ENST00000636477.1:c.445G>T	ENSP00000490746.1:p.Asp149Tyr
XM_005274046.1:c.511G>T	XP_005274103.1:p.Asp171Tyr