Canonical Allele Identifier: CA2665697497

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125138-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125139_49125140dup , CM000665.2:g.49125139_49125140dup	GRCh38
NC_000003.11:g.49162572_49162573dup , CM000665.1:g.49162572_49162573dup	GRCh37
NC_000003.10:g.49137576_49137577dup	NCBI36
NG_008094.1:g.13027_13028dup
NG_054716.1:g.799_800dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2750_2751dup MANE Select	ENSP00000307156.4:p.Leu918GlyfsTer?
ENST00000305544.8:c.2750_2751dup	ENSP00000307156.4:p.Leu918GlyfsTer?
ENST00000418109.5:c.2750_2751dup	ENSP00000388325.1:p.Leu918GlyfsTer?
ENST00000462930.5:n.157_158dup
ENST00000464891.5:n.483_484dup
ENST00000483057.1:n.350_351dup
ENST00000486298.5:n.455_456dup
ENST00000542580.1:n.65_66dup
NM_002292.3:c.2750_2751dup	NP_002283.3:p.Leu918GlyfsTer?
XM_005265127.3:c.2750_2751dup	XP_005265184.1:p.Leu918GlyfsTer?
XM_005265127.4:c.2750_2751dup	XP_005265184.1:p.Leu918GlyfsTer?
NM_002292.4:c.2750_2751dup MANE Select	NP_002283.3:p.Leu918GlyfsTer?