Canonical Allele Identifier: CA2756174372

Gene: LAMB2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49125075_49125076insCACACCCAACACA , CM000665.2:g.49125075_49125076insCACACCCAACACA	GRCh38
NC_000003.11:g.49162508_49162509insCACACCCAACACA , CM000665.1:g.49162508_49162509insCACACCCAACACA	GRCh37
NC_000003.10:g.49137512_49137513insCACACCCAACACA	NCBI36
NG_008094.1:g.13092_13093insGTGTTGGGTGTGT
NG_054716.1:g.864_865insGTGTTGGGTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305544.9:c.2815_2816insGTGTTGGGTGTGT MANE Select	ENSP00000307156.4:p.Phe939CysfsTer13
ENST00000305544.8:c.2815_2816insGTGTTGGGTGTGT	ENSP00000307156.4:p.Phe939CysfsTer13
ENST00000418109.5:c.2815_2816insGTGTTGGGTGTGT	ENSP00000388325.1:p.Phe939CysfsTer13
ENST00000462930.5:n.222_223insGTGTTGGGTGTGT
ENST00000464891.5:n.548_549insGTGTTGGGTGTGT
ENST00000483057.1:n.415_416insGTGTTGGGTGTGT
ENST00000486298.5:n.520_521insGTGTTGGGTGTGT
ENST00000542580.1:n.130_131insGTGTTGGGTGTGT
NM_002292.3:c.2815_2816insGTGTTGGGTGTGT	NP_002283.3:p.Phe939CysfsTer13
XM_005265127.3:c.2815_2816insGTGTTGGGTGTGT	XP_005265184.1:p.Phe939CysfsTer13
XM_005265127.4:c.2815_2816insGTGTTGGGTGTGT	XP_005265184.1:p.Phe939CysfsTer13
NM_002292.4:c.2815_2816insGTGTTGGGTGTGT MANE Select	NP_002283.3:p.Phe939CysfsTer13