Canonical Allele Identifier: CA333708

Gene: LAMP2

Linked Data

• dbSNP Id: rs730880491
• MyVariant Identifiers: chrX:g.119582845del (hg19) ; chrX:g.120448990del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448993del , CM000685.2:g.120448993del	GRCh38
NC_000023.10:g.119582848del , CM000685.1:g.119582848del	GRCh37
NC_000023.9:g.119466876del	NCBI36
NG_007995.1:g.25360del , LRG_749:g.25360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.536del	ENSP00000516464.1:p.Asn179MetfsTer4
ENST00000200639.9:c.536del MANE Select	ENSP00000200639.4:p.Asn179MetfsTer4
ENST00000200639.8:c.536del	ENSP00000200639.4:p.Asn179MetfsTer4
ENST00000371335.4:c.536del	ENSP00000360386.4:p.Asn179MetfsTer4
ENST00000434600.6:c.536del	ENSP00000408411.2:p.Asn179MetfsTer4
ENST00000486593.5:c.79del
NM_001122606.1:c.536del , LRG_749t3:c.536del	NP_001116078.1:p.Asn179MetfsTer4
NM_002294.2:c.536del , LRG_749t1:c.536del	NP_002285.1:p.Asn179MetfsTer4
NM_013995.2:c.536del , LRG_749t2:c.536del	NP_054701.1:p.Asn179MetfsTer4
NM_002294.3:c.536del MANE Select	NP_002285.1:p.Asn179MetfsTer4