Canonical Allele Identifier: CA870732068

Gene: LAMP2

Linked Data

• dbSNP Id: rs1194422515
• MyVariant Identifiers: chrX:g.119581864del (hg19) ; chrX:g.120448009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448011del , CM000685.2:g.120448011del	GRCh38
NC_000023.10:g.119581866del , CM000685.1:g.119581866del	GRCh37
NC_000023.9:g.119465894del	NCBI36
NG_007995.1:g.26341del , LRG_749:g.26341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.573del	ENSP00000516464.1:p.Asp192ThrfsTer?
ENST00000200639.9:c.573del MANE Select	ENSP00000200639.4:p.Asp192ThrfsTer?
ENST00000200639.8:c.573del	ENSP00000200639.4:p.Asp192ThrfsTer?
ENST00000371335.4:c.573del	ENSP00000360386.4:p.Asp192ThrfsTer?
ENST00000434600.6:c.573del	ENSP00000408411.2:p.Asp192ThrfsTer?
ENST00000486593.5:c.116del
NM_001122606.1:c.573del , LRG_749t3:c.573del	NP_001116078.1:p.Asp192ThrfsTer?
NM_002294.2:c.573del , LRG_749t1:c.573del	NP_002285.1:p.Asp192ThrfsTer?
NM_013995.2:c.573del , LRG_749t2:c.573del	NP_054701.1:p.Asp192ThrfsTer?
NM_002294.3:c.573del MANE Select	NP_002285.1:p.Asp192ThrfsTer?