Canonical Allele Identifier: CA120875
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9983
ClinVar RCV Id: RCV000010664
dbSNP Id: rs104894859

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120441862A>G , CM000685.2:g.120441862A>G GRCh38
NC_000023.10:g.119575717A>G , CM000685.1:g.119575717A>G GRCh37
NC_000023.9:g.119459745A>G NCBI36
NG_007995.1:g.32488T>C , LRG_749:g.32488T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.961T>C ENSP00000516464.1:p.Trp321Arg
ENST00000200639.9:c.961T>C MANE Select ENSP00000200639.4:p.Trp321Arg
ENST00000200639.8:c.961T>C ENSP00000200639.4:p.Trp321Arg
ENST00000371335.4:c.961T>C ENSP00000360386.4:p.Trp321Arg
ENST00000434600.6:c.961T>C ENSP00000408411.2:p.Trp321Arg
ENST00000486593.5:c.504T>C
NM_001122606.1:c.961T>C , LRG_749t3:c.961T>C NP_001116078.1:p.Trp321Arg
NM_002294.2:c.961T>C , LRG_749t1:c.961T>C NP_002285.1:p.Trp321Arg
NM_013995.2:c.961T>C , LRG_749t2:c.961T>C NP_054701.1:p.Trp321Arg
NM_002294.3:c.961T>C MANE Select NP_002285.1:p.Trp321Arg