Canonical Allele Identifier: CA2756174178
Gene: LAMB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49125397_49125398del , CM000665.2:g.49125397_49125398del GRCh38
NC_000003.11:g.49162830_49162831del , CM000665.1:g.49162830_49162831del GRCh37
NC_000003.10:g.49137834_49137835del NCBI36
NG_008094.1:g.12769_12770del
NG_054716.1:g.541_542del

Transcript Alleles

HGVS Amino-acid Change
ENST00000305544.9:c.2575_2576del MANE Select ENSP00000307156.4:p.Leu859SerfsTer3
ENST00000305544.8:c.2575_2576del ENSP00000307156.4:p.Leu859SerfsTer3
ENST00000418109.5:c.2575_2576del ENSP00000388325.1:p.Leu859SerfsTer3
ENST00000464891.5:n.324_325del
ENST00000477701.1:n.448_449del
ENST00000483057.1:n.175_176del
ENST00000486298.5:n.426-229_426-228del
NM_002292.3:c.2575_2576del NP_002283.3:p.Leu859SerfsTer3
XM_005265127.3:c.2575_2576del XP_005265184.1:p.Leu859SerfsTer3
XM_005265127.4:c.2575_2576del XP_005265184.1:p.Leu859SerfsTer3
NM_002292.4:c.2575_2576del MANE Select NP_002283.3:p.Leu859SerfsTer3