Canonical Allele Identifier: CA10505239

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 415504
• ClinVar RCV Id: RCV000467050 ; RCV001653850 ; RCV001700191 ; RCV003960089
• dbSNP Id: rs746330494
• ExAC: X:119576524 GA / G
• gnomAD v2: X-119576524-GA-G
• gnomAD v3: X-120442669-GA-G
• gnomAD v4: X-120442669-GA-G
• MyVariant Identifiers: chrX:g.119576525del (hg19) ; chrX:g.120442670del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442674del , CM000685.2:g.120442674del	GRCh38
NC_000023.10:g.119576529del , CM000685.1:g.119576529del	GRCh37
NC_000023.9:g.119460557del	NCBI36
NG_007995.1:g.31680del , LRG_749:g.31680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.865-8del	ENSP00000516464.1:n.865-8del
ENST00000200639.9:c.865-8del MANE Select	ENSP00000200639.4:n.865-8del
ENST00000200639.8:c.865-8del	ENSP00000200639.4:n.865-8del
ENST00000371335.4:c.865-8del	ENSP00000360386.4:n.865-8del
ENST00000434600.6:c.865-8del	ENSP00000408411.2:n.865-8del
ENST00000486593.5:c.408-8del
NM_001122606.1:c.865-8del , LRG_749t3:c.865-8del	NP_001116078.1:n.865-8del
NM_002294.2:c.865-8del , LRG_749t1:c.865-8del	NP_002285.1:n.865-8del
NM_013995.2:c.865-8del , LRG_749t2:c.865-8del	NP_054701.1:n.865-8del
NM_002294.3:c.865-8del MANE Select	NP_002285.1:n.865-8del