Canonical Allele Identifier: CA2665695220

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122839-TCTCAGCCACTCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122840_49122853del , CM000665.2:g.49122840_49122853del	GRCh38
NC_000003.11:g.49160273_49160286del , CM000665.1:g.49160273_49160286del	GRCh37
NC_000003.10:g.49135277_49135290del	NCBI36
NG_008094.1:g.15314_15327del
NG_054716.1:g.3086_3099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4424_4437del MANE Select	ENSP00000307156.4:p.Ser1475AsnfsTer20
ENST00000305544.8:c.4424_4437del	ENSP00000307156.4:p.Ser1475AsnfsTer20
ENST00000418109.5:c.4424_4437del	ENSP00000388325.1:p.Ser1475AsnfsTer20
ENST00000469665.1:n.733_746del
NM_002292.3:c.4424_4437del	NP_002283.3:p.Ser1475AsnfsTer20
XM_005265127.3:c.4424_4437del	XP_005265184.1:p.Ser1475AsnfsTer20
XM_005265127.4:c.4424_4437del	XP_005265184.1:p.Ser1475AsnfsTer20
NM_002292.4:c.4424_4437del MANE Select	NP_002283.3:p.Ser1475AsnfsTer20