Canonical Allele Identifier: CA2573050970
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122773del , CM000665.2:g.49122773del GRCh38
NC_000003.11:g.49160206del , CM000665.1:g.49160206del GRCh37
NC_000003.10:g.49135210del NCBI36
NG_008094.1:g.15394del
NG_054716.1:g.3166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4504del MANE Select ENSP00000307156.4:p.Arg1502GlyfsTer18
ENST00000305544.8:c.4504del ENSP00000307156.4:p.Arg1502GlyfsTer18
ENST00000418109.5:c.4504del ENSP00000388325.1:p.Arg1502GlyfsTer18
ENST00000469665.1:n.813del
NM_002292.3:c.4504del NP_002283.3:p.Arg1502GlyfsTer18
XM_005265127.3:c.4504del XP_005265184.1:p.Arg1502GlyfsTer18
XM_005265127.4:c.4504del XP_005265184.1:p.Arg1502GlyfsTer18
NM_002292.4:c.4504del MANE Select NP_002283.3:p.Arg1502GlyfsTer18