Canonical Allele Identifier: CA475382588

Gene: CABP2

Linked Data

• gnomAD v4: 11-67521026-G-A
• MyVariant Identifiers: chr11:g.67288497G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521026G>A , CM000673.2:g.67521026G>A	GRCh38
NC_000011.9:g.67288497G>A , CM000673.1:g.67288497G>A	GRCh37
NC_000011.8:g.67045073G>A	NCBI36
NG_032982.1:g.7403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.378C>T MANE Select	ENSP00000294288.4:p.Ile126=
ENST00000545205.2:c.*163C>T	ENSP00000446180.1:n.*163C>T
ENST00000636477.1:c.330C>T	ENSP00000490746.1:p.Ile110=
ENST00000294288.4:c.378C>T	ENSP00000294288.4:p.Ile126=
ENST00000353903.9:c.207C>T	ENSP00000312037.4:p.Ile69=
ENST00000545205.1:c.*163C>T	ENSP00000446180.1:n.*163C>T
NM_016366.2:c.378C>T	NP_057450.2:p.Ile126=
XM_005274046.1:c.396C>T	XP_005274103.1:p.Ile132=
NM_001318496.1:c.396C>T	NP_001305425.1:p.Ile132=
NM_001318496.2:c.396C>T	NP_001305425.1:p.Ile132=
NM_016366.3:c.378C>T MANE Select	NP_057450.2:p.Ile126=