Canonical Allele Identifier: CA2562201856

Gene: LAMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448916del , CM000685.2:g.120448916del	GRCh38
NC_000023.10:g.119582771del , CM000685.1:g.119582771del	GRCh37
NC_000023.9:g.119466799del	NCBI36
NG_007995.1:g.25435del , LRG_749:g.25435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.556+55del	ENSP00000516464.1:n.556+55del
ENST00000200639.9:c.556+55del MANE Select	ENSP00000200639.4:n.556+55del
ENST00000200639.8:c.556+55del	ENSP00000200639.4:n.556+55del
ENST00000371335.4:c.556+55del	ENSP00000360386.4:n.556+55del
ENST00000434600.6:c.556+55del	ENSP00000408411.2:n.556+55del
ENST00000486593.5:c.99+55del
NM_001122606.1:c.556+55del , LRG_749t3:c.556+55del	NP_001116078.1:n.556+55del
NM_002294.2:c.556+55del , LRG_749t1:c.556+55del	NP_002285.1:n.556+55del
NM_013995.2:c.556+55del , LRG_749t2:c.556+55del	NP_054701.1:n.556+55del
NM_002294.3:c.556+55del MANE Select	NP_002285.1:n.556+55del