Canonical Allele Identifier: CA2665695303

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122857-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122857_49122858insTA , CM000665.2:g.49122857_49122858insTA	GRCh38
NC_000003.11:g.49160290_49160291insTA , CM000665.1:g.49160290_49160291insTA	GRCh37
NC_000003.10:g.49135294_49135295insTA	NCBI36
NG_008094.1:g.15309_15310insTA
NG_054716.1:g.3081_3082insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4419_4420insTA MANE Select	ENSP00000307156.4:p.Leu1474TyrfsTer?
ENST00000305544.8:c.4419_4420insTA	ENSP00000307156.4:p.Leu1474TyrfsTer?
ENST00000418109.5:c.4419_4420insTA	ENSP00000388325.1:p.Leu1474TyrfsTer?
ENST00000469665.1:n.728_729insTA
NM_002292.3:c.4419_4420insTA	NP_002283.3:p.Leu1474TyrfsTer?
XM_005265127.3:c.4419_4420insTA	XP_005265184.1:p.Leu1474TyrfsTer?
XM_005265127.4:c.4419_4420insTA	XP_005265184.1:p.Leu1474TyrfsTer?
NM_002292.4:c.4419_4420insTA MANE Select	NP_002283.3:p.Leu1474TyrfsTer?