Canonical Allele Identifier: CA381515774

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288567A>C (hg19) ; chr11:g.67521096A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521096A>C , CM000673.2:g.67521096A>C	GRCh38
NC_000011.9:g.67288567A>C , CM000673.1:g.67288567A>C	GRCh37
NC_000011.8:g.67045143A>C	NCBI36
NG_032982.1:g.7333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.308T>G MANE Select	ENSP00000294288.4:p.Leu103Arg
ENST00000545205.2:c.*93T>G	ENSP00000446180.1:n.*93T>G
ENST00000636477.1:c.260T>G	ENSP00000490746.1:p.Leu87Arg
ENST00000294288.4:c.308T>G	ENSP00000294288.4:p.Leu103Arg
ENST00000353903.9:c.137T>G	ENSP00000312037.4:p.Leu46Arg
ENST00000545205.1:c.*93T>G	ENSP00000446180.1:n.*93T>G
NM_016366.2:c.308T>G	NP_057450.2:p.Leu103Arg
XM_005274046.1:c.326T>G	XP_005274103.1:p.Leu109Arg
NM_001318496.1:c.326T>G	NP_001305425.1:p.Leu109Arg
NM_001318496.2:c.326T>G	NP_001305425.1:p.Leu109Arg
NM_016366.3:c.308T>G MANE Select	NP_057450.2:p.Leu103Arg