Canonical Allele Identifier: CA414402227
Gene: LAMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120449078G>T , CM000685.2:g.120449078G>T GRCh38
NC_000023.10:g.119582933G>T , CM000685.1:g.119582933G>T GRCh37
NC_000023.9:g.119466961G>T NCBI36
NG_007995.1:g.25272C>A , LRG_749:g.25272C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.448C>A ENSP00000516464.1:p.Leu150Ile
ENST00000200639.9:c.448C>A MANE Select ENSP00000200639.4:p.Leu150Ile
ENST00000200639.8:c.448C>A ENSP00000200639.4:p.Leu150Ile
ENST00000371335.4:c.448C>A ENSP00000360386.4:p.Leu150Ile
ENST00000434600.6:c.448C>A ENSP00000408411.2:p.Leu150Ile
NM_001122606.1:c.448C>A , LRG_749t3:c.448C>A NP_001116078.1:p.Leu150Ile
NM_002294.2:c.448C>A , LRG_749t1:c.448C>A NP_002285.1:p.Leu150Ile
NM_013995.2:c.448C>A , LRG_749t2:c.448C>A NP_054701.1:p.Leu150Ile
NM_002294.3:c.448C>A MANE Select NP_002285.1:p.Leu150Ile