Canonical Allele Identifier: CA2665695536
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49123207-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123208del , CM000665.2:g.49123208del GRCh38
NC_000003.11:g.49160641del , CM000665.1:g.49160641del GRCh37
NC_000003.10:g.49135645del NCBI36
NG_008094.1:g.14959del
NG_054716.1:g.2731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4148del MANE Select ENSP00000307156.4:p.His1383ProfsTer18
ENST00000305544.8:c.4148del ENSP00000307156.4:p.His1383ProfsTer18
ENST00000418109.5:c.4148del ENSP00000388325.1:p.His1383ProfsTer18
ENST00000469665.1:n.378del
NM_002292.3:c.4148del NP_002283.3:p.His1383ProfsTer18
XM_005265127.3:c.4148del XP_005265184.1:p.His1383ProfsTer18
XM_005265127.4:c.4148del XP_005265184.1:p.His1383ProfsTer18
NM_002292.4:c.4148del MANE Select NP_002283.3:p.His1383ProfsTer18
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