Canonical Allele Identifier: CA120868
Gene: LAMP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9982
ClinVar RCV Id: RCV000010663 RCV000157981
dbSNP Id: rs104894858
MyVariant Identifiers: chrX:g.119576454C>T (hg19) chrX:g.120442599C>T (hg38)

User contributed link-outs

PubMed: PMID:15673802 PMID:16217705 PMID:18555174 PMID:19318653 PMID:19373884
Calculator
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120442599C>T , CM000685.2:g.120442599C>T GRCh38
NC_000023.10:g.119576454C>T , CM000685.1:g.119576454C>T GRCh37
NC_000023.9:g.119460482C>T NCBI36
NG_007995.1:g.31751G>A , LRG_749:g.31751G>A

Transcript Alleles

HGVS Amino-acid change
NM_001122606.1:c.928G>A , LRG_749t3:c.928G>A NP_001116078.1:p.Val310Ile
NM_002294.2:c.928G>A , LRG_749t1:c.928G>A NP_002285.1:p.Val310Ile
NM_013995.2:c.928G>A , LRG_749t2:c.928G>A NP_054701.1:p.Val310Ile
ENST00000200639.8:c.928G>A ENSP00000200639.4:p.Val310Ile
ENST00000371335.4:c.928G>A ENSP00000360386.4:p.Val310Ile
ENST00000434600.6:c.928G>A ENSP00000408411.2:p.Val310Ile
ENST00000486593.5:n.471G>A
Search 100 bp 5'
Search 100 bp 3'