Canonical Allele Identifier: CA414397867
Gene: LAMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120469130G>A , CM000685.2:g.120469130G>A GRCh38
NC_000023.10:g.119602985G>A , CM000685.1:g.119602985G>A GRCh37
NC_000023.9:g.119487013G>A NCBI36
NG_007995.1:g.5220C>T , LRG_749:g.5220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.40C>T ENSP00000516464.1:p.Leu14Phe
ENST00000200639.9:c.40C>T MANE Select ENSP00000200639.4:p.Leu14Phe
ENST00000200639.8:c.40C>T ENSP00000200639.4:p.Leu14Phe
ENST00000371335.4:c.40C>T ENSP00000360386.4:p.Leu14Phe
ENST00000434600.6:c.40C>T ENSP00000408411.2:p.Leu14Phe
NM_001122606.1:c.40C>T , LRG_749t3:c.40C>T NP_001116078.1:p.Leu14Phe
NM_002294.2:c.40C>T , LRG_749t1:c.40C>T NP_002285.1:p.Leu14Phe
NM_013995.2:c.40C>T , LRG_749t2:c.40C>T NP_054701.1:p.Leu14Phe
NM_002294.3:c.40C>T MANE Select NP_002285.1:p.Leu14Phe