Canonical Allele Identifier: CA2665697395

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49125073-A-AAAGTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125074_49125079dup , CM000665.2:g.49125074_49125079dup	GRCh38
NC_000003.11:g.49162507_49162512dup , CM000665.1:g.49162507_49162512dup	GRCh37
NC_000003.10:g.49137511_49137516dup	NCBI36
NG_008094.1:g.13088_13093dup
NG_054716.1:g.860_865dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2811_2816dup MANE Select	ENSP00000307156.4:p.His938_Phe939insLeuHis
ENST00000305544.8:c.2811_2816dup	ENSP00000307156.4:p.His938_Phe939insLeuHis
ENST00000418109.5:c.2811_2816dup	ENSP00000388325.1:p.His938_Phe939insLeuHis
ENST00000462930.5:n.218_223dup
ENST00000464891.5:n.544_549dup
ENST00000483057.1:n.411_416dup
ENST00000486298.5:n.516_521dup
ENST00000542580.1:n.126_131dup
NM_002292.3:c.2811_2816dup	NP_002283.3:p.His938_Phe939insLeuHis
XM_005265127.3:c.2811_2816dup	XP_005265184.1:p.His938_Phe939insLeuHis
XM_005265127.4:c.2811_2816dup	XP_005265184.1:p.His938_Phe939insLeuHis
NM_002292.4:c.2811_2816dup MANE Select	NP_002283.3:p.His938_Phe939insLeuHis