Canonical Allele Identifier: CA475382724

Gene: CABP2

Linked Data

• gnomAD v4: 11-67521095-C-T
• MyVariant Identifiers: chr11:g.67288566C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67521095C>T , CM000673.2:g.67521095C>T	GRCh38
NC_000011.9:g.67288566C>T , CM000673.1:g.67288566C>T	GRCh37
NC_000011.8:g.67045142C>T	NCBI36
NG_032982.1:g.7334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294288.5:c.309G>A MANE Select	ENSP00000294288.4:p.Leu103=
ENST00000545205.2:c.*94G>A	ENSP00000446180.1:n.*94G>A
ENST00000636477.1:c.261G>A	ENSP00000490746.1:p.Leu87=
ENST00000294288.4:c.309G>A	ENSP00000294288.4:p.Leu103=
ENST00000353903.9:c.138G>A	ENSP00000312037.4:p.Leu46=
ENST00000545205.1:c.*94G>A	ENSP00000446180.1:n.*94G>A
NM_016366.2:c.309G>A	NP_057450.2:p.Leu103=
XM_005274046.1:c.327G>A	XP_005274103.1:p.Leu109=
NM_001318496.1:c.327G>A	NP_001305425.1:p.Leu109=
NM_001318496.2:c.327G>A	NP_001305425.1:p.Leu109=
NM_016366.3:c.309G>A MANE Select	NP_057450.2:p.Leu103=