Canonical Allele Identifier: CA10505375
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 650063
dbSNP Id: rs769378984

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120469141G>A , CM000685.2:g.120469141G>A GRCh38
NC_000023.10:g.119602996G>A , CM000685.1:g.119602996G>A GRCh37
NC_000023.9:g.119487024G>A NCBI36
NG_007995.1:g.5209C>T , LRG_749:g.5209C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.29C>T ENSP00000516464.1:p.Pro10Leu
ENST00000200639.9:c.29C>T MANE Select ENSP00000200639.4:p.Pro10Leu
ENST00000200639.8:c.29C>T ENSP00000200639.4:p.Pro10Leu
ENST00000371335.4:c.29C>T ENSP00000360386.4:p.Pro10Leu
ENST00000434600.6:c.29C>T ENSP00000408411.2:p.Pro10Leu
NM_001122606.1:c.29C>T , LRG_749t3:c.29C>T NP_001116078.1:p.Pro10Leu
NM_002294.2:c.29C>T , LRG_749t1:c.29C>T NP_002285.1:p.Pro10Leu
NM_013995.2:c.29C>T , LRG_749t2:c.29C>T NP_054701.1:p.Pro10Leu
NM_002294.3:c.29C>T MANE Select NP_002285.1:p.Pro10Leu