Canonical Allele Identifier: CA2580100275

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 2450357
• ClinVar RCV Id: RCV003176886

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442614_120442617del , CM000685.2:g.120442614_120442617del	GRCh38
NC_000023.10:g.119576469_119576472del , CM000685.1:g.119576469_119576472del	GRCh37
NC_000023.9:g.119460497_119460500del	NCBI36
NG_007995.1:g.31734_31737del , LRG_749:g.31734_31737del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.911_914del	ENSP00000516464.1:p.Tyr304TrpfsTer?
ENST00000200639.9:c.911_914del MANE Select	ENSP00000200639.4:p.Tyr304TrpfsTer?
ENST00000200639.8:c.911_914del	ENSP00000200639.4:p.Tyr304TrpfsTer?
ENST00000371335.4:c.911_914del	ENSP00000360386.4:p.Tyr304TrpfsTer?
ENST00000434600.6:c.911_914del	ENSP00000408411.2:p.Tyr304TrpfsTer?
ENST00000486593.5:c.454_457del
NM_001122606.1:c.911_914del , LRG_749t3:c.911_914del	NP_001116078.1:p.Tyr304TrpfsTer?
NM_002294.2:c.911_914del , LRG_749t1:c.911_914del	NP_002285.1:p.Tyr304TrpfsTer?
NM_013995.2:c.911_914del , LRG_749t2:c.911_914del	NP_054701.1:p.Tyr304TrpfsTer?
NM_002294.3:c.911_914del MANE Select	NP_002285.1:p.Tyr304TrpfsTer?