Canonical Allele Identifier: CA2665695222

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122840-C-CGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122840_49122841insGAT , CM000665.2:g.49122840_49122841insGAT	GRCh38
NC_000003.11:g.49160273_49160274insGAT , CM000665.1:g.49160273_49160274insGAT	GRCh37
NC_000003.10:g.49135277_49135278insGAT	NCBI36
NG_008094.1:g.15326_15327insATC
NG_054716.1:g.3098_3099insATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4436_4437insATC MANE Select	ENSP00000307156.4:p.Glu1479_Thr1480insSer
ENST00000305544.8:c.4436_4437insATC	ENSP00000307156.4:p.Glu1479_Thr1480insSer
ENST00000418109.5:c.4436_4437insATC	ENSP00000388325.1:p.Glu1479_Thr1480insSer
ENST00000469665.1:n.745_746insATC
NM_002292.3:c.4436_4437insATC	NP_002283.3:p.Glu1479_Thr1480insSer
XM_005265127.3:c.4436_4437insATC	XP_005265184.1:p.Glu1479_Thr1480insSer
XM_005265127.4:c.4436_4437insATC	XP_005265184.1:p.Glu1479_Thr1480insSer
NM_002292.4:c.4436_4437insATC MANE Select	NP_002283.3:p.Glu1479_Thr1480insSer