Canonical Allele Identifier: CA381515517

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288534G>T (hg19) ; chr11:g.67521063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521063G>T , CM000673.2:g.67521063G>T	GRCh38
NC_000011.9:g.67288534G>T , CM000673.1:g.67288534G>T	GRCh37
NC_000011.8:g.67045110G>T	NCBI36
NG_032982.1:g.7366C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.341C>A MANE Select	ENSP00000294288.4:p.Pro114His
ENST00000545205.2:c.*126C>A	ENSP00000446180.1:n.*126C>A
ENST00000636477.1:c.293C>A	ENSP00000490746.1:p.Pro98His
ENST00000294288.4:c.341C>A	ENSP00000294288.4:p.Pro114His
ENST00000353903.9:c.170C>A	ENSP00000312037.4:p.Pro57His
ENST00000545205.1:c.*126C>A	ENSP00000446180.1:n.*126C>A
NM_016366.2:c.341C>A	NP_057450.2:p.Pro114His
XM_005274046.1:c.359C>A	XP_005274103.1:p.Pro120His
NM_001318496.1:c.359C>A	NP_001305425.1:p.Pro120His
NM_001318496.2:c.359C>A	NP_001305425.1:p.Pro120His
NM_016366.3:c.341C>A MANE Select	NP_057450.2:p.Pro114His