Canonical Allele Identifier: CA16043204
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372712
dbSNP Id: rs1057517940

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120441748G>A , CM000685.2:g.120441748G>A GRCh38
NC_000023.10:g.119575603G>A , CM000685.1:g.119575603G>A GRCh37
NC_000023.9:g.119459631G>A NCBI36
NG_007995.1:g.32602C>T , LRG_749:g.32602C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.1075C>T ENSP00000516464.1:p.Gln359Ter
ENST00000200639.9:c.1075C>T MANE Select ENSP00000200639.4:p.Gln359Ter
ENST00000200639.8:c.1075C>T ENSP00000200639.4:p.Gln359Ter
ENST00000371335.4:c.1075C>T ENSP00000360386.4:p.Gln359Ter
ENST00000434600.6:c.1075C>T ENSP00000408411.2:p.Gln359Ter
ENST00000486593.5:c.618C>T
NM_001122606.1:c.1075C>T , LRG_749t3:c.1075C>T NP_001116078.1:p.Gln359Ter
NM_002294.2:c.1075C>T , LRG_749t1:c.1075C>T NP_002285.1:p.Gln359Ter
NM_013995.2:c.1075C>T , LRG_749t2:c.1075C>T NP_054701.1:p.Gln359Ter
NM_002294.3:c.1075C>T MANE Select NP_002285.1:p.Gln359Ter