Canonical Allele Identifier: CA2665697396

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125075-AGTGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125078_49125082del , CM000665.2:g.49125078_49125082del	GRCh38
NC_000003.11:g.49162511_49162515del , CM000665.1:g.49162511_49162515del	GRCh37
NC_000003.10:g.49137515_49137519del	NCBI36
NG_008094.1:g.13087_13091del
NG_054716.1:g.859_863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2810_2814del MANE Select	ENSP00000307156.4:p.Arg937LeufsTer9
ENST00000305544.8:c.2810_2814del	ENSP00000307156.4:p.Arg937LeufsTer9
ENST00000418109.5:c.2810_2814del	ENSP00000388325.1:p.Arg937LeufsTer9
ENST00000462930.5:n.217_221del
ENST00000464891.5:n.543_547del
ENST00000483057.1:n.410_414del
ENST00000486298.5:n.515_519del
ENST00000542580.1:n.125_129del
NM_002292.3:c.2810_2814del	NP_002283.3:p.Arg937LeufsTer9
XM_005265127.3:c.2810_2814del	XP_005265184.1:p.Arg937LeufsTer9
XM_005265127.4:c.2810_2814del	XP_005265184.1:p.Arg937LeufsTer9
NM_002292.4:c.2810_2814del MANE Select	NP_002283.3:p.Arg937LeufsTer9