Canonical Allele Identifier: CA2524079089

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120447968_120447969insATGATACTTGT , CM000685.2:g.120447968_120447969insATGATACTTGT	GRCh38
NC_000023.10:g.119581823_119581824insATGATACTTGT , CM000685.1:g.119581823_119581824insATGATACTTGT	GRCh37
NC_000023.9:g.119465851_119465852insATGATACTTGT	NCBI36
NG_007995.1:g.26381_26382insACAAGTATCAT , LRG_749:g.26381_26382insACAAGTATCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.613_614insACAAGTATCAT	ENSP00000516464.1:p.Val205AspfsTer?
ENST00000200639.9:c.613_614insACAAGTATCAT MANE Select	ENSP00000200639.4:p.Val205AspfsTer?
ENST00000200639.8:c.613_614insACAAGTATCAT	ENSP00000200639.4:p.Val205AspfsTer?
ENST00000371335.4:c.613_614insACAAGTATCAT	ENSP00000360386.4:p.Val205AspfsTer?
ENST00000434600.6:c.613_614insACAAGTATCAT	ENSP00000408411.2:p.Val205AspfsTer?
ENST00000486593.5:c.156_157insACAAGTATCAT
NM_001122606.1:c.613_614insACAAGTATCAT , LRG_749t3:c.613_614insACAAGTATCAT	NP_001116078.1:p.Val205AspfsTer?
NM_002294.2:c.613_614insACAAGTATCAT , LRG_749t1:c.613_614insACAAGTATCAT	NP_002285.1:p.Val205AspfsTer?
NM_013995.2:c.613_614insACAAGTATCAT , LRG_749t2:c.613_614insACAAGTATCAT	NP_054701.1:p.Val205AspfsTer?
NM_002294.3:c.613_614insACAAGTATCAT MANE Select	NP_002285.1:p.Val205AspfsTer?