Canonical Allele Identifier: CA381515656

Gene: CABP2

Linked Data

• dbSNP Id: rs1185147211
• gnomAD v3: 11-67521078-G-A
• gnomAD v4: 11-67521078-G-A
• COSMIC: COSM3452342
• MyVariant Identifiers: chr11:g.67288549G>A (hg19) ; chr11:g.67521078G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521078G>A , CM000673.2:g.67521078G>A	GRCh38
NC_000011.9:g.67288549G>A , CM000673.1:g.67288549G>A	GRCh37
NC_000011.8:g.67045125G>A	NCBI36
NG_032982.1:g.7351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.326C>T MANE Select	ENSP00000294288.4:p.Thr109Ile
ENST00000545205.2:c.*111C>T	ENSP00000446180.1:n.*111C>T
ENST00000636477.1:c.278C>T	ENSP00000490746.1:p.Thr93Ile
ENST00000294288.4:c.326C>T	ENSP00000294288.4:p.Thr109Ile
ENST00000353903.9:c.155C>T	ENSP00000312037.4:p.Thr52Ile
ENST00000545205.1:c.*111C>T	ENSP00000446180.1:n.*111C>T
NM_016366.2:c.326C>T	NP_057450.2:p.Thr109Ile
XM_005274046.1:c.344C>T	XP_005274103.1:p.Thr115Ile
NM_001318496.1:c.344C>T	NP_001305425.1:p.Thr115Ile
NM_001318496.2:c.344C>T	NP_001305425.1:p.Thr115Ile
NM_016366.3:c.326C>T MANE Select	NP_057450.2:p.Thr109Ile