Canonical Allele Identifier: CA381515255

Gene: CABP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.376A>C MANE Select	ENSP00000294288.4:p.Ile126Leu
ENST00000545205.2:c.*161A>C	ENSP00000446180.1:n.*161A>C
ENST00000636477.1:c.328A>C	ENSP00000490746.1:p.Ile110Leu
ENST00000294288.4:c.376A>C	ENSP00000294288.4:p.Ile126Leu
ENST00000353903.9:c.205A>C	ENSP00000312037.4:p.Ile69Leu
ENST00000545205.1:c.*161A>C	ENSP00000446180.1:n.*161A>C
NM_016366.2:c.376A>C	NP_057450.2:p.Ile126Leu
XM_005274046.1:c.394A>C	XP_005274103.1:p.Ile132Leu
NM_001318496.1:c.394A>C	NP_001305425.1:p.Ile132Leu
NM_001318496.2:c.394A>C	NP_001305425.1:p.Ile132Leu
NM_016366.3:c.376A>C MANE Select	NP_057450.2:p.Ile126Leu