Canonical Allele Identifier: CA2665695252

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122847-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122847_49122848insT , CM000665.2:g.49122847_49122848insT	GRCh38
NC_000003.11:g.49160280_49160281insT , CM000665.1:g.49160280_49160281insT	GRCh37
NC_000003.10:g.49135284_49135285insT	NCBI36
NG_008094.1:g.15319_15320insA
NG_054716.1:g.3091_3092insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4429_4430insA MANE Select	ENSP00000307156.4:p.Val1477AspfsTer3
ENST00000305544.8:c.4429_4430insA	ENSP00000307156.4:p.Val1477AspfsTer3
ENST00000418109.5:c.4429_4430insA	ENSP00000388325.1:p.Val1477AspfsTer3
ENST00000469665.1:n.738_739insA
NM_002292.3:c.4429_4430insA	NP_002283.3:p.Val1477AspfsTer3
XM_005265127.3:c.4429_4430insA	XP_005265184.1:p.Val1477AspfsTer3
XM_005265127.4:c.4429_4430insA	XP_005265184.1:p.Val1477AspfsTer3
NM_002292.4:c.4429_4430insA MANE Select	NP_002283.3:p.Val1477AspfsTer3