Canonical Allele Identifier: CA333709
Gene: LAMP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180887
ClinVar RCV Id: RCV000157984
dbSNP Id: rs730880492
MyVariant Identifiers: chrX:g.119581848_119581849insTGTTG (hg19) chrX:g.120447993_120447994insTGTTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.120447994_120447998dup , CM000685.2:g.120447994_120447998dup GRCh38
NC_000023.10:g.119581849_119581853dup , CM000685.1:g.119581849_119581853dup GRCh37
NC_000023.9:g.119465877_119465881dup NCBI36
NG_007995.1:g.26352_26356dup , LRG_749:g.26352_26356dup

Transcript Alleles

HGVS Amino-acid change
ENST00000706600.1:c.584_588dup ENSP00000516464.1:p.Val197GlnfsTer?
ENST00000200639.9:c.584_588dup MANE Select ENSP00000200639.4:p.Val197GlnfsTer?
ENST00000200639.8:c.584_588dup ENSP00000200639.4:p.Val197GlnfsTer?
ENST00000371335.4:c.584_588dup ENSP00000360386.4:p.Val197GlnfsTer?
ENST00000434600.6:c.584_588dup ENSP00000408411.2:p.Val197GlnfsTer?
ENST00000486593.5:c.127_131dup
NM_001122606.1:c.584_588dup , LRG_749t3:c.584_588dup NP_001116078.1:p.Val197GlnfsTer?
NM_002294.2:c.584_588dup , LRG_749t1:c.584_588dup NP_002285.1:p.Val197GlnfsTer?
NM_013995.2:c.584_588dup , LRG_749t2:c.584_588dup NP_054701.1:p.Val197GlnfsTer?
NM_002294.3:c.584_588dup MANE Select NP_002285.1:p.Val197GlnfsTer?
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