Canonical Allele Identifier: CA2573055082

Gene: LAMP2

Linked Data

• dbSNP Id: rs2147283084
• gnomAD v4: X-120449072-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449077del , CM000685.2:g.120449077del	GRCh38
NC_000023.10:g.119582932del , CM000685.1:g.119582932del	GRCh37
NC_000023.9:g.119466960del	NCBI36
NG_007995.1:g.25277del , LRG_749:g.25277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.453del	ENSP00000516464.1:p.Phe151LeufsTer?
ENST00000200639.9:c.453del MANE Select	ENSP00000200639.4:p.Phe151LeufsTer?
ENST00000200639.8:c.453del	ENSP00000200639.4:p.Phe151LeufsTer?
ENST00000371335.4:c.453del	ENSP00000360386.4:p.Phe151LeufsTer?
ENST00000434600.6:c.453del	ENSP00000408411.2:p.Phe151LeufsTer?
NM_001122606.1:c.453del , LRG_749t3:c.453del	NP_001116078.1:p.Phe151LeufsTer?
NM_002294.2:c.453del , LRG_749t1:c.453del	NP_002285.1:p.Phe151LeufsTer?
NM_013995.2:c.453del , LRG_749t2:c.453del	NP_054701.1:p.Phe151LeufsTer?
NM_002294.3:c.453del MANE Select	NP_002285.1:p.Phe151LeufsTer?