Canonical Allele Identifier: CA2579692112
Gene: LAMP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120442525T>G , CM000685.2:g.120442525T>G GRCh38
NC_000023.10:g.119576380T>G , CM000685.1:g.119576380T>G GRCh37
NC_000023.9:g.119460408T>G NCBI36
NG_007995.1:g.31825A>C , LRG_749:g.31825A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.928+74A>C ENSP00000516464.1:n.928+74A>C
ENST00000200639.9:c.928+74A>C MANE Select ENSP00000200639.4:n.928+74A>C
ENST00000200639.8:c.928+74A>C ENSP00000200639.4:n.928+74A>C
ENST00000371335.4:c.928+74A>C ENSP00000360386.4:n.928+74A>C
ENST00000434600.6:c.928+74A>C ENSP00000408411.2:n.928+74A>C
ENST00000486593.5:c.471+74A>C
NM_001122606.1:c.928+74A>C , LRG_749t3:c.928+74A>C NP_001116078.1:n.928+74A>C
NM_002294.2:c.928+74A>C , LRG_749t1:c.928+74A>C NP_002285.1:n.928+74A>C
NM_013995.2:c.928+74A>C , LRG_749t2:c.928+74A>C NP_054701.1:n.928+74A>C
NM_002294.3:c.928+74A>C MANE Select NP_002285.1:n.928+74A>C