Canonical Allele Identifier: CA2665695233
Gene: LAMB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49122845_49122846del , CM000665.2:g.49122845_49122846del GRCh38
NC_000003.11:g.49160278_49160279del , CM000665.1:g.49160278_49160279del GRCh37
NC_000003.10:g.49135282_49135283del NCBI36
NG_008094.1:g.15321_15322del
NG_054716.1:g.3093_3094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.4431_4432del MANE Select ENSP00000307156.4:p.Ala1478Ter
ENST00000305544.8:c.4431_4432del ENSP00000307156.4:p.Ala1478Ter
ENST00000418109.5:c.4431_4432del ENSP00000388325.1:p.Ala1478Ter
ENST00000469665.1:n.740_741del
NM_002292.3:c.4431_4432del NP_002283.3:p.Ala1478Ter
XM_005265127.3:c.4431_4432del XP_005265184.1:p.Ala1478Ter
XM_005265127.4:c.4431_4432del XP_005265184.1:p.Ala1478Ter
NM_002292.4:c.4431_4432del MANE Select NP_002283.3:p.Ala1478Ter