Canonical Allele Identifier: CA2665695204

Gene: LAMB2

Linked Data

• gnomAD v4: 3-49122836-G-GAGGAGAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49122838_49122839insGAGAGTAG , CM000665.2:g.49122838_49122839insGAGAGTAG	GRCh38
NC_000003.11:g.49160271_49160272insGAGAGTAG , CM000665.1:g.49160271_49160272insGAGAGTAG	GRCh37
NC_000003.10:g.49135275_49135276insGAGAGTAG	NCBI36
NG_008094.1:g.15330_15331insACTCTCCT
NG_054716.1:g.3102_3103insACTCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.4440_4441insACTCTCCT MANE Select	ENSP00000307156.4:p.Arg1481ThrfsTer?
ENST00000305544.8:c.4440_4441insACTCTCCT	ENSP00000307156.4:p.Arg1481ThrfsTer?
ENST00000418109.5:c.4440_4441insACTCTCCT	ENSP00000388325.1:p.Arg1481ThrfsTer?
ENST00000469665.1:n.749_750insACTCTCCT
NM_002292.3:c.4440_4441insACTCTCCT	NP_002283.3:p.Arg1481ThrfsTer?
XM_005265127.3:c.4440_4441insACTCTCCT	XP_005265184.1:p.Arg1481ThrfsTer?
XM_005265127.4:c.4440_4441insACTCTCCT	XP_005265184.1:p.Arg1481ThrfsTer?
NM_002292.4:c.4440_4441insACTCTCCT MANE Select	NP_002283.3:p.Arg1481ThrfsTer?