Canonical Allele Identifier: CA381515850

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288580C>A (hg19) ; chr11:g.67521109C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521109C>A , CM000673.2:g.67521109C>A	GRCh38
NC_000011.9:g.67288580C>A , CM000673.1:g.67288580C>A	GRCh37
NC_000011.8:g.67045156C>A	NCBI36
NG_032982.1:g.7320G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.295G>T MANE Select	ENSP00000294288.4:p.Gly99Cys
ENST00000545205.2:c.*80G>T	ENSP00000446180.1:n.*80G>T
ENST00000636477.1:c.247G>T	ENSP00000490746.1:p.Gly83Cys
ENST00000294288.4:c.295G>T	ENSP00000294288.4:p.Gly99Cys
ENST00000353903.9:c.124G>T	ENSP00000312037.4:p.Gly42Cys
ENST00000545205.1:c.*80G>T	ENSP00000446180.1:n.*80G>T
NM_016366.2:c.295G>T	NP_057450.2:p.Gly99Cys
XM_005274046.1:c.313G>T	XP_005274103.1:p.Gly105Cys
NM_001318496.1:c.313G>T	NP_001305425.1:p.Gly105Cys
NM_001318496.2:c.313G>T	NP_001305425.1:p.Gly105Cys
NM_016366.3:c.295G>T MANE Select	NP_057450.2:p.Gly99Cys