Canonical Allele Identifier: CA2665695339

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122870-T-TCGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122870_49122871insCGGTGG , CM000665.2:g.49122870_49122871insCGGTGG	GRCh38
NC_000003.11:g.49160303_49160304insCGGTGG , CM000665.1:g.49160303_49160304insCGGTGG	GRCh37
NC_000003.10:g.49135307_49135308insCGGTGG	NCBI36
NG_008094.1:g.15296_15297insCCACCG
NG_054716.1:g.3068_3069insCCACCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4406_4407insCCACCG MANE Select	ENSP00000307156.4:p.Glu1469delinsAspHisArg
ENST00000305544.8:c.4406_4407insCCACCG	ENSP00000307156.4:p.Glu1469delinsAspHisArg
ENST00000418109.5:c.4406_4407insCCACCG	ENSP00000388325.1:p.Glu1469delinsAspHisArg
ENST00000469665.1:n.715_716insCCACCG
NM_002292.3:c.4406_4407insCCACCG	NP_002283.3:p.Glu1469delinsAspHisArg
XM_005265127.3:c.4406_4407insCCACCG	XP_005265184.1:p.Glu1469delinsAspHisArg
XM_005265127.4:c.4406_4407insCCACCG	XP_005265184.1:p.Glu1469delinsAspHisArg
NM_002292.4:c.4406_4407insCCACCG MANE Select	NP_002283.3:p.Glu1469delinsAspHisArg