Canonical Allele Identifier: CA2665695261
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122849-TCTGCTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122850_49122855del , CM000665.2:g.49122850_49122855del GRCh38
NC_000003.11:g.49160283_49160288del , CM000665.1:g.49160283_49160288del GRCh37
NC_000003.10:g.49135287_49135292del NCBI36
NG_008094.1:g.15312_15317del
NG_054716.1:g.3084_3089del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4422_4427del MANE Select ENSP00000307156.4:p.Ser1475_Arg1476del
ENST00000305544.8:c.4422_4427del ENSP00000307156.4:p.Ser1475_Arg1476del
ENST00000418109.5:c.4422_4427del ENSP00000388325.1:p.Ser1475_Arg1476del
ENST00000469665.1:n.731_736del
NM_002292.3:c.4422_4427del NP_002283.3:p.Ser1475_Arg1476del
XM_005265127.3:c.4422_4427del XP_005265184.1:p.Ser1475_Arg1476del
XM_005265127.4:c.4422_4427del XP_005265184.1:p.Ser1475_Arg1476del
NM_002292.4:c.4422_4427del MANE Select NP_002283.3:p.Ser1475_Arg1476del
Search 100 bp 5'
Search 100 bp 3'