Canonical Allele Identifier: CA2454873127

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 996776
• ClinVar RCV Id: RCV001291558
• dbSNP Id: rs2058610123

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449039del , CM000685.2:g.120449039del	GRCh38
NC_000023.10:g.119582894del , CM000685.1:g.119582894del	GRCh37
NC_000023.9:g.119466922del	NCBI36
NG_007995.1:g.25311del , LRG_749:g.25311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.487del	ENSP00000516464.1:p.Asp163MetfsTer20
ENST00000200639.9:c.487del MANE Select	ENSP00000200639.4:p.Asp163MetfsTer20
ENST00000200639.8:c.487del	ENSP00000200639.4:p.Asp163MetfsTer20
ENST00000371335.4:c.487del	ENSP00000360386.4:p.Asp163MetfsTer20
ENST00000434600.6:c.487del	ENSP00000408411.2:p.Asp163MetfsTer20
ENST00000486593.5:c.30del
NM_001122606.1:c.487del , LRG_749t3:c.487del	NP_001116078.1:p.Asp163MetfsTer20
NM_002294.2:c.487del , LRG_749t1:c.487del	NP_002285.1:p.Asp163MetfsTer20
NM_013995.2:c.487del , LRG_749t2:c.487del	NP_054701.1:p.Asp163MetfsTer20
NM_002294.3:c.487del MANE Select	NP_002285.1:p.Asp163MetfsTer20