Canonical Allele Identifier: CA891844532

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 566028
• ClinVar RCV Id: RCV000685738
• dbSNP Id: rs1569369940
• MyVariant Identifiers: chrX:g.119582912_119582966dup (hg19) ; chrX:g.120449057_120449111dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449059_120449113dup , CM000685.2:g.120449059_120449113dup	GRCh38
NC_000023.10:g.119582914_119582968dup , CM000685.1:g.119582914_119582968dup	GRCh37
NC_000023.9:g.119466942_119466996dup	NCBI36
NG_007995.1:g.25239_25293dup , LRG_749:g.25239_25293dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.415_469dup	ENSP00000516464.1:p.Ser157Ter
ENST00000200639.9:c.415_469dup MANE Select	ENSP00000200639.4:p.Ser157Ter
ENST00000200639.8:c.415_469dup	ENSP00000200639.4:p.Ser157Ter
ENST00000371335.4:c.415_469dup	ENSP00000360386.4:p.Ser157Ter
ENST00000434600.6:c.415_469dup	ENSP00000408411.2:p.Ser157Ter
NM_001122606.1:c.415_469dup , LRG_749t3:c.415_469dup	NP_001116078.1:p.Ser157Ter
NM_002294.2:c.415_469dup , LRG_749t1:c.415_469dup	NP_002285.1:p.Ser157Ter
NM_013995.2:c.415_469dup , LRG_749t2:c.415_469dup	NP_054701.1:p.Ser157Ter
NM_002294.3:c.415_469dup MANE Select	NP_002285.1:p.Ser157Ter