Canonical Allele Identifier: CA381515259

Gene: CABP2

Linked Data

• MyVariant Identifiers: chr11:g.67288501T>A (hg19) ; chr11:g.67521030T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521030T>A , CM000673.2:g.67521030T>A	GRCh38
NC_000011.9:g.67288501T>A , CM000673.1:g.67288501T>A	GRCh37
NC_000011.8:g.67045077T>A	NCBI36
NG_032982.1:g.7399A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.374A>T MANE Select	ENSP00000294288.4:p.Gln125Leu
ENST00000545205.2:c.*159A>T	ENSP00000446180.1:n.*159A>T
ENST00000636477.1:c.326A>T	ENSP00000490746.1:p.Gln109Leu
ENST00000294288.4:c.374A>T	ENSP00000294288.4:p.Gln125Leu
ENST00000353903.9:c.203A>T	ENSP00000312037.4:p.Gln68Leu
ENST00000545205.1:c.*159A>T	ENSP00000446180.1:n.*159A>T
NM_016366.2:c.374A>T	NP_057450.2:p.Gln125Leu
XM_005274046.1:c.392A>T	XP_005274103.1:p.Gln131Leu
NM_001318496.1:c.392A>T	NP_001305425.1:p.Gln131Leu
NM_001318496.2:c.392A>T	NP_001305425.1:p.Gln131Leu
NM_016366.3:c.374A>T MANE Select	NP_057450.2:p.Gln125Leu