Canonical Allele Identifier: CA2573159188

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 1685922
• ClinVar RCV Id: RCV002250089
• dbSNP Id: rs2147283096

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449089_120449093dup , CM000685.2:g.120449089_120449093dup	GRCh38
NC_000023.10:g.119582944_119582948dup , CM000685.1:g.119582944_119582948dup	GRCh37
NC_000023.9:g.119466972_119466976dup	NCBI36
NG_007995.1:g.25260_25264dup , LRG_749:g.25260_25264dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.436_440dup	ENSP00000516464.1:p.Leu147PhefsTer3
ENST00000200639.9:c.436_440dup MANE Select	ENSP00000200639.4:p.Leu147PhefsTer3
ENST00000200639.8:c.436_440dup	ENSP00000200639.4:p.Leu147PhefsTer3
ENST00000371335.4:c.436_440dup	ENSP00000360386.4:p.Leu147PhefsTer3
ENST00000434600.6:c.436_440dup	ENSP00000408411.2:p.Leu147PhefsTer3
NM_001122606.1:c.436_440dup , LRG_749t3:c.436_440dup	NP_001116078.1:p.Leu147PhefsTer3
NM_002294.2:c.436_440dup , LRG_749t1:c.436_440dup	NP_002285.1:p.Leu147PhefsTer3
NM_013995.2:c.436_440dup , LRG_749t2:c.436_440dup	NP_054701.1:p.Leu147PhefsTer3
NM_002294.3:c.436_440dup MANE Select	NP_002285.1:p.Leu147PhefsTer3