Canonical Allele Identifier: CA16616435
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409221
ClinVar RCV Id: RCV000470635
dbSNP Id: rs1060502302

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120448978_120448980delinsTA , CM000685.2:g.120448978_120448980delinsTA GRCh38
NC_000023.10:g.119582833_119582835delinsTA , CM000685.1:g.119582833_119582835delinsTA GRCh37
NC_000023.9:g.119466861_119466863delinsTA NCBI36
NG_007995.1:g.25370_25372delinsTA , LRG_749:g.25370_25372delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.546_548delinsTA ENSP00000516464.1:p.Ser183ThrfsTer?
ENST00000200639.9:c.546_548delinsTA MANE Select ENSP00000200639.4:p.Ser183ThrfsTer?
ENST00000200639.8:c.546_548delinsTA ENSP00000200639.4:p.Ser183ThrfsTer?
ENST00000371335.4:c.546_548delinsTA ENSP00000360386.4:p.Ser183ThrfsTer?
ENST00000434600.6:c.546_548delinsTA ENSP00000408411.2:p.Ser183ThrfsTer?
ENST00000486593.5:c.89_91delinsTA
NM_001122606.1:c.546_548delinsTA , LRG_749t3:c.546_548delinsTA NP_001116078.1:p.Ser183ThrfsTer?
NM_002294.2:c.546_548delinsTA , LRG_749t1:c.546_548delinsTA NP_002285.1:p.Ser183ThrfsTer?
NM_013995.2:c.546_548delinsTA , LRG_749t2:c.546_548delinsTA NP_054701.1:p.Ser183ThrfsTer?
NM_002294.3:c.546_548delinsTA MANE Select NP_002285.1:p.Ser183ThrfsTer?