Canonical Allele Identifier: CA381515251

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288499T>A (hg19) ; chr11:g.67521028T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521028T>A , CM000673.2:g.67521028T>A	GRCh38
NC_000011.9:g.67288499T>A , CM000673.1:g.67288499T>A	GRCh37
NC_000011.8:g.67045075T>A	NCBI36
NG_032982.1:g.7401A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.376A>T MANE Select	ENSP00000294288.4:p.Ile126Phe
ENST00000545205.2:c.*161A>T	ENSP00000446180.1:n.*161A>T
ENST00000636477.1:c.328A>T	ENSP00000490746.1:p.Ile110Phe
ENST00000294288.4:c.376A>T	ENSP00000294288.4:p.Ile126Phe
ENST00000353903.9:c.205A>T	ENSP00000312037.4:p.Ile69Phe
ENST00000545205.1:c.*161A>T	ENSP00000446180.1:n.*161A>T
NM_016366.2:c.376A>T	NP_057450.2:p.Ile126Phe
XM_005274046.1:c.394A>T	XP_005274103.1:p.Ile132Phe
NM_001318496.1:c.394A>T	NP_001305425.1:p.Ile132Phe
NM_001318496.2:c.394A>T	NP_001305425.1:p.Ile132Phe
NM_016366.3:c.376A>T MANE Select	NP_057450.2:p.Ile126Phe