Canonical Allele Identifier: CA2665695227

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122842-C-CGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122842_49122843insGTGT , CM000665.2:g.49122842_49122843insGTGT	GRCh38
NC_000003.11:g.49160275_49160276insGTGT , CM000665.1:g.49160275_49160276insGTGT	GRCh37
NC_000003.10:g.49135279_49135280insGTGT	NCBI36
NG_008094.1:g.15324_15325insACAC
NG_054716.1:g.3096_3097insACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4434_4435insACAC MANE Select	ENSP00000307156.4:p.Glu1479ThrfsTer22
ENST00000305544.8:c.4434_4435insACAC	ENSP00000307156.4:p.Glu1479ThrfsTer22
ENST00000418109.5:c.4434_4435insACAC	ENSP00000388325.1:p.Glu1479ThrfsTer22
ENST00000469665.1:n.743_744insACAC
NM_002292.3:c.4434_4435insACAC	NP_002283.3:p.Glu1479ThrfsTer22
XM_005265127.3:c.4434_4435insACAC	XP_005265184.1:p.Glu1479ThrfsTer22
XM_005265127.4:c.4434_4435insACAC	XP_005265184.1:p.Glu1479ThrfsTer22
NM_002292.4:c.4434_4435insACAC MANE Select	NP_002283.3:p.Glu1479ThrfsTer22