Canonical Allele Identifier: CA2454872880
Gene: LAMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120448096_120448097delinsCA , CM000685.2:g.120448096_120448097delinsCA GRCh38
NC_000023.10:g.119581951_119581952delinsCA , CM000685.1:g.119581951_119581952delinsCA GRCh37
NC_000023.9:g.119465979_119465980delinsCA NCBI36
NG_007995.1:g.26253_26254delinsTG , LRG_749:g.26253_26254delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.557-72_557-71delinsTG ENSP00000516464.1:n.557-72_557-71delinsTG
ENST00000200639.9:c.557-72_557-71delinsTG MANE Select ENSP00000200639.4:n.557-72_557-71delinsTG
ENST00000200639.8:c.557-72_557-71delinsTG ENSP00000200639.4:n.557-72_557-71delinsTG
ENST00000371335.4:c.557-72_557-71delinsTG ENSP00000360386.4:n.557-72_557-71delinsTG
ENST00000434600.6:c.557-72_557-71delinsTG ENSP00000408411.2:n.557-72_557-71delinsTG
ENST00000486593.5:c.100-72_100-71delinsTG
NM_001122606.1:c.557-72_557-71delinsTG , LRG_749t3:c.557-72_557-71delinsTG NP_001116078.1:n.557-72_557-71delinsTG
NM_002294.2:c.557-72_557-71delinsTG , LRG_749t1:c.557-72_557-71delinsTG NP_002285.1:n.557-72_557-71delinsTG
NM_013995.2:c.557-72_557-71delinsTG , LRG_749t2:c.557-72_557-71delinsTG NP_054701.1:n.557-72_557-71delinsTG
NM_002294.3:c.557-72_557-71delinsTG MANE Select NP_002285.1:n.557-72_557-71delinsTG