Canonical Allele Identifier: CA16616431
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409222
ClinVar RCV Id: RCV000477190
dbSNP Id: rs1060502303
MyVariant Identifiers: chrX:g.119580236del (hg19) chrX:g.120446381del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120446382del , CM000685.2:g.120446382del GRCh38
NC_000023.10:g.119580237del , CM000685.1:g.119580237del GRCh37
NC_000023.9:g.119464265del NCBI36
NG_007995.1:g.27969del , LRG_749:g.27969del

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.788del ENSP00000516464.1:p.Gly263AlafsTer20
ENST00000200639.9:c.788del MANE Select ENSP00000200639.4:p.Gly263AlafsTer20
ENST00000200639.8:c.788del ENSP00000200639.4:p.Gly263AlafsTer20
ENST00000371335.4:c.788del ENSP00000360386.4:p.Gly263AlafsTer20
ENST00000434600.6:c.788del ENSP00000408411.2:p.Gly263AlafsTer20
ENST00000486593.5:c.331del
NM_001122606.1:c.788del , LRG_749t3:c.788del NP_001116078.1:p.Gly263AlafsTer20
NM_002294.2:c.788del , LRG_749t1:c.788del NP_002285.1:p.Gly263AlafsTer20
NM_013995.2:c.788del , LRG_749t2:c.788del NP_054701.1:p.Gly263AlafsTer20
NM_002294.3:c.788del MANE Select NP_002285.1:p.Gly263AlafsTer20
Search 100 bp 5'
Search 100 bp 3'