Canonical Allele Identifier: CA6142432

Gene: CABP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67520039C>T , CM000673.2:g.67520039C>T	GRCh38
NC_000011.9:g.67287510C>T , CM000673.1:g.67287510C>T	GRCh37
NC_000011.8:g.67044086C>T	NCBI36
NG_032982.1:g.8390G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_016366.3:c.489+12G>A MANE Select	NP_057450.2:n.489+12G>A
ENST00000294288.5:c.489+12G>A MANE Select	ENSP00000294288.4:n.489+12G>A
NM_001318496.1:c.507+12G>A	NP_001305425.1:n.507+12G>A
NM_001318496.2:c.507+12G>A	NP_001305425.1:n.507+12G>A
NM_016366.2:c.489+12G>A	NP_057450.2:n.489+12G>A
ENST00000294288.4:c.489+12G>A	ENSP00000294288.4:n.489+12G>A
ENST00000353903.9:c.318+12G>A	ENSP00000312037.4:n.318+12G>A
ENST00000545205.1:c.*274+12G>A	ENSP00000446180.1:n.*274+12G>A
ENST00000545205.2:c.*274+12G>A	ENSP00000446180.1:n.*274+12G>A
ENST00000636477.1:c.441+12G>A	ENSP00000490746.1:n.441+12G>A
XM_005274046.1:c.507+12G>A	XP_005274103.1:n.507+12G>A