Canonical Allele Identifier: CA2665695216

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122838-GTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122841_49122842del , CM000665.2:g.49122841_49122842del	GRCh38
NC_000003.11:g.49160274_49160275del , CM000665.1:g.49160274_49160275del	GRCh37
NC_000003.10:g.49135278_49135279del	NCBI36
NG_008094.1:g.15327_15328del
NG_054716.1:g.3099_3100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4437_4438del MANE Select	ENSP00000307156.4:p.Glu1479AspfsTer20
ENST00000305544.8:c.4437_4438del	ENSP00000307156.4:p.Glu1479AspfsTer20
ENST00000418109.5:c.4437_4438del	ENSP00000388325.1:p.Glu1479AspfsTer20
ENST00000469665.1:n.746_747del
NM_002292.3:c.4437_4438del	NP_002283.3:p.Glu1479AspfsTer20
XM_005265127.3:c.4437_4438del	XP_005265184.1:p.Glu1479AspfsTer20
XM_005265127.4:c.4437_4438del	XP_005265184.1:p.Glu1479AspfsTer20
NM_002292.4:c.4437_4438del MANE Select	NP_002283.3:p.Glu1479AspfsTer20