Canonical Allele Identifier: CA335013572

Gene: LAMP2

Linked Data

• dbSNP Id: rs764145776
• gnomAD v2: X-119583067-TTC-T
• gnomAD v3: X-120449212-TTC-T
• gnomAD v4: X-120449212-TTC-T
• MyVariant Identifiers: chrX:g.119583068_119583069del (hg19) ; chrX:g.120449213_120449214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449218_120449219del , CM000685.2:g.120449218_120449219del	GRCh38
NC_000023.10:g.119583073_119583074del , CM000685.1:g.119583073_119583074del	GRCh37
NC_000023.9:g.119467101_119467102del	NCBI36
NG_007995.1:g.25136_25137del , LRG_749:g.25136_25137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.398-86_398-85del	ENSP00000516464.1:n.398-86_398-85del
ENST00000200639.9:c.398-86_398-85del MANE Select	ENSP00000200639.4:n.398-86_398-85del
ENST00000200639.8:c.398-86_398-85del	ENSP00000200639.4:n.398-86_398-85del
ENST00000371335.4:c.398-86_398-85del	ENSP00000360386.4:n.398-86_398-85del
ENST00000434600.6:c.398-86_398-85del	ENSP00000408411.2:n.398-86_398-85del
NM_001122606.1:c.398-86_398-85del , LRG_749t3:c.398-86_398-85del	NP_001116078.1:n.398-86_398-85del
NM_002294.2:c.398-86_398-85del , LRG_749t1:c.398-86_398-85del	NP_002285.1:n.398-86_398-85del
NM_013995.2:c.398-86_398-85del , LRG_749t2:c.398-86_398-85del	NP_054701.1:n.398-86_398-85del
NM_002294.3:c.398-86_398-85del MANE Select	NP_002285.1:n.398-86_398-85del