Canonical Allele Identifier: CA352696021
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs1251336428
gnomAD v2: 3-49160655-GTCC-G
gnomAD v3: 3-49123222-GTCC-G
gnomAD v4: 3-49123222-GTCC-G
MyVariant Identifiers: chr3:g.49160656_49160658del (hg19) chr3:g.49123224_49123226del (hg38) chr3:g.49123223_49123225del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49123227_49123229del , CM000665.2:g.49123227_49123229del GRCh38
NC_000003.11:g.49160660_49160662del , CM000665.1:g.49160660_49160662del GRCh37
NC_000003.10:g.49135664_49135666del NCBI36
NG_008094.1:g.14942_14944del
NG_054716.1:g.2714_2716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4131_4133del MANE Select ENSP00000307156.4:p.Glu1377del
ENST00000305544.8:c.4131_4133del ENSP00000307156.4:p.Glu1377del
ENST00000418109.5:c.4131_4133del ENSP00000388325.1:p.Glu1377del
ENST00000469665.1:n.361_363del
NM_002292.3:c.4131_4133del NP_002283.3:p.Glu1377del
XM_005265127.3:c.4131_4133del XP_005265184.1:p.Glu1377del
XM_005265127.4:c.4131_4133del XP_005265184.1:p.Glu1377del
NM_002292.4:c.4131_4133del MANE Select NP_002283.3:p.Glu1377del
Search 100 bp 5'
Search 100 bp 3'