Canonical Allele Identifier: CA2694598293
Gene: LAMP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120448936A>G , CM000685.2:g.120448936A>G GRCh38
NC_000023.10:g.119582791A>G , CM000685.1:g.119582791A>G GRCh37
NC_000023.9:g.119466819A>G NCBI36
NG_007995.1:g.25414T>C , LRG_749:g.25414T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.556+34T>C ENSP00000516464.1:n.556+34T>C
ENST00000200639.9:c.556+34T>C MANE Select ENSP00000200639.4:n.556+34T>C
ENST00000200639.8:c.556+34T>C ENSP00000200639.4:n.556+34T>C
ENST00000371335.4:c.556+34T>C ENSP00000360386.4:n.556+34T>C
ENST00000434600.6:c.556+34T>C ENSP00000408411.2:n.556+34T>C
ENST00000486593.5:c.99+34T>C
NM_001122606.1:c.556+34T>C , LRG_749t3:c.556+34T>C NP_001116078.1:n.556+34T>C
NM_002294.2:c.556+34T>C , LRG_749t1:c.556+34T>C NP_002285.1:n.556+34T>C
NM_013995.2:c.556+34T>C , LRG_749t2:c.556+34T>C NP_054701.1:n.556+34T>C
NM_002294.3:c.556+34T>C MANE Select NP_002285.1:n.556+34T>C