Canonical Allele Identifier: CA2577594268
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49124985del , CM000665.2:g.49124985del GRCh38
NC_000003.11:g.49162418del , CM000665.1:g.49162418del GRCh37
NC_000003.10:g.49137422del NCBI36
NG_008094.1:g.13182del
NG_054716.1:g.954del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2884+21del MANE Select ENSP00000307156.4:n.2884+21del
ENST00000305544.8:c.2884+21del ENSP00000307156.4:n.2884+21del
ENST00000418109.5:c.2884+21del ENSP00000388325.1:n.2884+21del
ENST00000462930.5:n.291+21del
ENST00000464891.5:n.617+21del
ENST00000483057.1:n.484+21del
ENST00000542580.1:n.199+21del
NM_002292.3:c.2884+21del NP_002283.3:n.2884+21del
XM_005265127.3:c.2884+21del XP_005265184.1:n.2884+21del
XM_005265127.4:c.2884+21del XP_005265184.1:n.2884+21del
NM_002292.4:c.2884+21del MANE Select NP_002283.3:n.2884+21del