Canonical Allele Identifier: CA134061
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36440
ClinVar RCV Id: RCV000030112 RCV000037402 RCV000157958 RCV000675451 RCV000613856
dbSNP Id: rs193922648
ExAC: X:119603038 AGGCGGCGAC / A
gnomAD v2: X-119603038-AGGCGGCGAC-A
gnomAD v3: X-120469183-AGGCGGCGAC-A
gnomAD v4: X-120469183-AGGCGGCGAC-A
COSMIC: COSN20117920
MyVariant Identifiers: chrX:g.119603039_119603047del (hg19) chrX:g.120469185_120469193del (hg38) chrX:g.120469184_120469192del (hg38)
PubMed: PMID:21415759
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120469200_120469208del , CM000685.2:g.120469200_120469208del GRCh38
NC_000023.10:g.119603055_119603063del , CM000685.1:g.119603055_119603063del GRCh37
NC_000023.9:g.119487083_119487091del NCBI36
NG_007995.1:g.5158_5166del , LRG_749:g.5158_5166del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706600.1:c.-23_-15del ENSP00000516464.1:n.-23_-15del
ENST00000200639.9:c.-23_-15del MANE Select ENSP00000200639.4:n.-23_-15del
ENST00000200639.8:c.-23_-15del ENSP00000200639.4:n.-23_-15del
ENST00000371335.4:c.-23_-15del ENSP00000360386.4:n.-23_-15del
ENST00000434600.6:c.-23_-15del ENSP00000408411.2:n.-23_-15del
NM_001122606.1:c.-23_-15del , LRG_749t3:c.-23_-15del NP_001116078.1:n.-23_-15del
NM_002294.2:c.-23_-15del , LRG_749t1:c.-23_-15del NP_002285.1:n.-23_-15del
NM_013995.2:c.-23_-15del , LRG_749t2:c.-23_-15del NP_054701.1:n.-23_-15del
NM_002294.3:c.-23_-15del MANE Select NP_002285.1:n.-23_-15del
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