Canonical Allele Identifier: CA870743116

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 9980
• ClinVar RCV Id: RCV000010661
• dbSNP Id: rs1436181133
• MyVariant Identifiers: chrX:g.119602983_119602989del (hg19) ; chrX:g.120469128_120469134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469134_120469140del , CM000685.2:g.120469134_120469140del	GRCh38
NC_000023.10:g.119602989_119602995del , CM000685.1:g.119602989_119602995del	GRCh37
NC_000023.9:g.119487017_119487023del	NCBI36
NG_007995.1:g.5216_5222del , LRG_749:g.5216_5222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.36_42del	ENSP00000516464.1:p.Gly13PhefsTer5
ENST00000200639.9:c.36_42del MANE Select	ENSP00000200639.4:p.Gly13PhefsTer5
ENST00000200639.8:c.36_42del	ENSP00000200639.4:p.Gly13PhefsTer5
ENST00000371335.4:c.36_42del	ENSP00000360386.4:p.Gly13PhefsTer5
ENST00000434600.6:c.36_42del	ENSP00000408411.2:p.Gly13PhefsTer5
NM_001122606.1:c.36_42del , LRG_749t3:c.36_42del	NP_001116078.1:p.Gly13PhefsTer5
NM_002294.2:c.36_42del , LRG_749t1:c.36_42del	NP_002285.1:p.Gly13PhefsTer5
NM_013995.2:c.36_42del , LRG_749t2:c.36_42del	NP_054701.1:p.Gly13PhefsTer5
NM_002294.3:c.36_42del MANE Select	NP_002285.1:p.Gly13PhefsTer5