Canonical Allele Identifier: CA2577594195
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122835_49122856del , CM000665.2:g.49122835_49122856del GRCh38
NC_000003.11:g.49160268_49160289del , CM000665.1:g.49160268_49160289del GRCh37
NC_000003.10:g.49135272_49135293del NCBI36
NG_008094.1:g.15313_15334del
NG_054716.1:g.3085_3106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4423_4444del MANE Select ENSP00000307156.4:p.Ser1475GlyfsTer?
ENST00000305544.8:c.4423_4444del ENSP00000307156.4:p.Ser1475GlyfsTer?
ENST00000418109.5:c.4423_4444del ENSP00000388325.1:p.Ser1475GlyfsTer?
ENST00000469665.1:n.732_753del
NM_002292.3:c.4423_4444del NP_002283.3:p.Ser1475GlyfsTer?
XM_005265127.3:c.4423_4444del XP_005265184.1:p.Ser1475GlyfsTer?
XM_005265127.4:c.4423_4444del XP_005265184.1:p.Ser1475GlyfsTer?
NM_002292.4:c.4423_4444del MANE Select NP_002283.3:p.Ser1475GlyfsTer?