Canonical Allele Identifier: CA10505303

Gene: LAMP2

Linked Data

• dbSNP Id: rs752509876
• ExAC: X:119582950 C / A
• COSMIC: COSM1213073 ; COSM1213074 ; COSM1213075
• MyVariant Identifiers: chrX:g.119582950C>A (hg19) ; chrX:g.120449095C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120449095C>A , CM000685.2:g.120449095C>A	GRCh38
NC_000023.10:g.119582950C>A , CM000685.1:g.119582950C>A	GRCh37
NC_000023.9:g.119466978C>A	NCBI36
NG_007995.1:g.25255G>T , LRG_749:g.25255G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.431G>T	ENSP00000516464.1:p.Arg144Ile
ENST00000200639.9:c.431G>T MANE Select	ENSP00000200639.4:p.Arg144Ile
ENST00000200639.8:c.431G>T	ENSP00000200639.4:p.Arg144Ile
ENST00000371335.4:c.431G>T	ENSP00000360386.4:p.Arg144Ile
ENST00000434600.6:c.431G>T	ENSP00000408411.2:p.Arg144Ile
NM_001122606.1:c.431G>T , LRG_749t3:c.431G>T	NP_001116078.1:p.Arg144Ile
NM_002294.2:c.431G>T , LRG_749t1:c.431G>T	NP_002285.1:p.Arg144Ile
NM_013995.2:c.431G>T , LRG_749t2:c.431G>T	NP_054701.1:p.Arg144Ile
NM_002294.3:c.431G>T MANE Select	NP_002285.1:p.Arg144Ile