Canonical Allele Identifier: CA6142507

Gene: CABP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521105C>A , CM000673.2:g.67521105C>A	GRCh38
NC_000011.9:g.67288576C>A , CM000673.1:g.67288576C>A	GRCh37
NC_000011.8:g.67045152C>A	NCBI36
NG_032982.1:g.7324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.299G>T MANE Select	ENSP00000294288.4:p.Cys100Phe
ENST00000545205.2:c.*84G>T	ENSP00000446180.1:n.*84G>T
ENST00000636477.1:c.251G>T	ENSP00000490746.1:p.Cys84Phe
ENST00000294288.4:c.299G>T	ENSP00000294288.4:p.Cys100Phe
ENST00000353903.9:c.128G>T	ENSP00000312037.4:p.Cys43Phe
ENST00000545205.1:c.*84G>T	ENSP00000446180.1:n.*84G>T
NM_016366.2:c.299G>T	NP_057450.2:p.Cys100Phe
XM_005274046.1:c.317G>T	XP_005274103.1:p.Cys106Phe
NM_001318496.1:c.317G>T	NP_001305425.1:p.Cys106Phe
NM_001318496.2:c.317G>T	NP_001305425.1:p.Cys106Phe
NM_016366.3:c.299G>T MANE Select	NP_057450.2:p.Cys100Phe