Canonical Allele Identifier: CA176513

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 163812
• ClinVar RCV Id: RCV000150911 ; RCV000255646 ; RCV000844639
• dbSNP Id: rs727503118
• MyVariant Identifiers: chrX:g.119576505G>A (hg19) ; chrX:g.120442650G>A (hg38)
• PubMed: PMID:20445193 ; PMID:21896538 ; PMID:22695892

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442650G>A , CM000685.2:g.120442650G>A	GRCh38
NC_000023.10:g.119576505G>A , CM000685.1:g.119576505G>A	GRCh37
NC_000023.9:g.119460533G>A	NCBI36
NG_007995.1:g.31700C>T , LRG_749:g.31700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.877C>T	ENSP00000516464.1:p.Arg293Ter
ENST00000200639.9:c.877C>T MANE Select	ENSP00000200639.4:p.Arg293Ter
ENST00000200639.8:c.877C>T	ENSP00000200639.4:p.Arg293Ter
ENST00000371335.4:c.877C>T	ENSP00000360386.4:p.Arg293Ter
ENST00000434600.6:c.877C>T	ENSP00000408411.2:p.Arg293Ter
ENST00000486593.5:c.420C>T
NM_001122606.1:c.877C>T , LRG_749t3:c.877C>T	NP_001116078.1:p.Arg293Ter
NM_002294.2:c.877C>T , LRG_749t1:c.877C>T	NP_002285.1:p.Arg293Ter
NM_013995.2:c.877C>T , LRG_749t2:c.877C>T	NP_054701.1:p.Arg293Ter
NM_002294.3:c.877C>T MANE Select	NP_002285.1:p.Arg293Ter