Canonical Allele Identifier: CA2665695281
Gene: LAMB2 HGNC NCBI

Linked Data

gnomAD v4: 3-49122852-GCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122853_49122854del , CM000665.2:g.49122853_49122854del GRCh38
NC_000003.11:g.49160286_49160287del , CM000665.1:g.49160286_49160287del GRCh37
NC_000003.10:g.49135290_49135291del NCBI36
NG_008094.1:g.15313_15314del
NG_054716.1:g.3085_3086del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4423_4424del MANE Select ENSP00000307156.4:p.Ser1475GlnfsTer4
ENST00000305544.8:c.4423_4424del ENSP00000307156.4:p.Ser1475GlnfsTer4
ENST00000418109.5:c.4423_4424del ENSP00000388325.1:p.Ser1475GlnfsTer4
ENST00000469665.1:n.732_733del
NM_002292.3:c.4423_4424del NP_002283.3:p.Ser1475GlnfsTer4
XM_005265127.3:c.4423_4424del XP_005265184.1:p.Ser1475GlnfsTer4
XM_005265127.4:c.4423_4424del XP_005265184.1:p.Ser1475GlnfsTer4
NM_002292.4:c.4423_4424del MANE Select NP_002283.3:p.Ser1475GlnfsTer4
Search 100 bp 5'
Search 100 bp 3'