Canonical Allele Identifier: CA870733692

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 2697727
• ClinVar RCV Id: RCV003510447
• dbSNP Id: rs1168977589
• gnomAD v3: X-120448036-C-T
• gnomAD v4: X-120448036-C-T
• MyVariant Identifiers: chrX:g.119581891C>T (hg19) ; chrX:g.120448036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448036C>T , CM000685.2:g.120448036C>T	GRCh38
NC_000023.10:g.119581891C>T , CM000685.1:g.119581891C>T	GRCh37
NC_000023.9:g.119465919C>T	NCBI36
NG_007995.1:g.26314G>A , LRG_749:g.26314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.557-11G>A	ENSP00000516464.1:n.557-11G>A
ENST00000200639.9:c.557-11G>A MANE Select	ENSP00000200639.4:n.557-11G>A
ENST00000200639.8:c.557-11G>A	ENSP00000200639.4:n.557-11G>A
ENST00000371335.4:c.557-11G>A	ENSP00000360386.4:n.557-11G>A
ENST00000434600.6:c.557-11G>A	ENSP00000408411.2:n.557-11G>A
ENST00000486593.5:c.100-11G>A
NM_001122606.1:c.557-11G>A , LRG_749t3:c.557-11G>A	NP_001116078.1:n.557-11G>A
NM_002294.2:c.557-11G>A , LRG_749t1:c.557-11G>A	NP_002285.1:n.557-11G>A
NM_013995.2:c.557-11G>A , LRG_749t2:c.557-11G>A	NP_054701.1:n.557-11G>A
NM_002294.3:c.557-11G>A MANE Select	NP_002285.1:n.557-11G>A