Canonical Allele Identifier: CA1363339711
Gene: LAMB2 HGNC NCBI

Linked Data

dbSNP Id: rs2045363460
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122904_49122905del , CM000665.2:g.49122904_49122905del GRCh38
NC_000003.11:g.49160337_49160338del , CM000665.1:g.49160337_49160338del GRCh37
NC_000003.10:g.49135341_49135342del NCBI36
NG_008094.1:g.15268_15269del
NG_054716.1:g.3040_3041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4378_4379del MANE Select ENSP00000307156.4:p.Gln1460GlyfsTer12
ENST00000305544.8:c.4378_4379del ENSP00000307156.4:p.Gln1460GlyfsTer12
ENST00000418109.5:c.4378_4379del ENSP00000388325.1:p.Gln1460GlyfsTer12
ENST00000469665.1:n.687_688del
NM_002292.3:c.4378_4379del NP_002283.3:p.Gln1460GlyfsTer12
XM_005265127.3:c.4378_4379del XP_005265184.1:p.Gln1460GlyfsTer12
XM_005265127.4:c.4378_4379del XP_005265184.1:p.Gln1460GlyfsTer12
NM_002292.4:c.4378_4379del MANE Select NP_002283.3:p.Gln1460GlyfsTer12
Search 100 bp 5'
Search 100 bp 3'