Canonical Allele Identifier: CA916082573
Gene: LAMB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 842232
ClinVar RCV Id: RCV001044619
dbSNP Id: rs2045352880
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122727_49122769del , CM000665.2:g.49122727_49122769del GRCh38
NC_000003.11:g.49160160_49160202del , CM000665.1:g.49160160_49160202del GRCh37
NC_000003.10:g.49135164_49135206del NCBI36
NG_008094.1:g.15400_15442del
NG_054716.1:g.3172_3214del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4510_4552del MANE Select ENSP00000307156.4:p.Gln1504ValfsTer2
ENST00000305544.8:c.4510_4552del ENSP00000307156.4:p.Gln1504ValfsTer2
ENST00000418109.5:c.4510_4552del ENSP00000388325.1:p.Gln1504ValfsTer2
ENST00000469665.1:n.819_861del
NM_002292.3:c.4510_4552del NP_002283.3:p.Gln1504ValfsTer2
XM_005265127.3:c.4510_4552del XP_005265184.1:p.Gln1504ValfsTer2
XM_005265127.4:c.4510_4552del XP_005265184.1:p.Gln1504ValfsTer2
NM_002292.4:c.4510_4552del MANE Select NP_002283.3:p.Gln1504ValfsTer2
Search 100 bp 5'
Search 100 bp 3'