Canonical Allele Identifier: CA543048540

Gene: LAMB2

Linked Data

• dbSNP Id: rs1341788674
• gnomAD v2: 3-49160276-AGCC-A
• gnomAD v4: 3-49122843-AGCC-A
• MyVariant Identifiers: chr3:g.49160277_49160279del (hg19) ; chr3:g.49122844_49122846del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122844_49122846del , CM000665.2:g.49122844_49122846del	GRCh38
NC_000003.11:g.49160277_49160279del , CM000665.1:g.49160277_49160279del	GRCh37
NC_000003.10:g.49135281_49135283del	NCBI36
NG_008094.1:g.15321_15323del
NG_054716.1:g.3093_3095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4431_4433del MANE Select	ENSP00000307156.4:p.Ala1478del
ENST00000305544.8:c.4431_4433del	ENSP00000307156.4:p.Ala1478del
ENST00000418109.5:c.4431_4433del	ENSP00000388325.1:p.Ala1478del
ENST00000469665.1:n.740_742del
NM_002292.3:c.4431_4433del	NP_002283.3:p.Ala1478del
XM_005265127.3:c.4431_4433del	XP_005265184.1:p.Ala1478del
XM_005265127.4:c.4431_4433del	XP_005265184.1:p.Ala1478del
NM_002292.4:c.4431_4433del MANE Select	NP_002283.3:p.Ala1478del