Canonical Allele Identifier: CA414402068
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1949612
ClinVar RCV Id: RCV002676348
dbSNP Id: rs1242313514

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120449036C>T , CM000685.2:g.120449036C>T GRCh38
NC_000023.10:g.119582891C>T , CM000685.1:g.119582891C>T GRCh37
NC_000023.9:g.119466919C>T NCBI36
NG_007995.1:g.25314G>A , LRG_749:g.25314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.490G>A ENSP00000516464.1:p.Val164Ile
ENST00000200639.9:c.490G>A MANE Select ENSP00000200639.4:p.Val164Ile
ENST00000200639.8:c.490G>A ENSP00000200639.4:p.Val164Ile
ENST00000371335.4:c.490G>A ENSP00000360386.4:p.Val164Ile
ENST00000434600.6:c.490G>A ENSP00000408411.2:p.Val164Ile
ENST00000486593.5:c.33G>A
NM_001122606.1:c.490G>A , LRG_749t3:c.490G>A NP_001116078.1:p.Val164Ile
NM_002294.2:c.490G>A , LRG_749t1:c.490G>A NP_002285.1:p.Val164Ile
NM_013995.2:c.490G>A , LRG_749t2:c.490G>A NP_054701.1:p.Val164Ile
NM_002294.3:c.490G>A MANE Select NP_002285.1:p.Val164Ile