Canonical Allele Identifier: CA414400262

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 835011
• ClinVar RCV Id: RCV001035811
• dbSNP Id: rs104894858
• MyVariant Identifiers: chrX:g.119576454C>A (hg19) ; chrX:g.120442599C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120442599C>A , CM000685.2:g.120442599C>A	GRCh38
NC_000023.10:g.119576454C>A , CM000685.1:g.119576454C>A	GRCh37
NC_000023.9:g.119460482C>A	NCBI36
NG_007995.1:g.31751G>T , LRG_749:g.31751G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.928G>T	ENSP00000516464.1:p.Val310Phe
ENST00000200639.9:c.928G>T MANE Select	ENSP00000200639.4:p.Val310Phe
ENST00000200639.8:c.928G>T	ENSP00000200639.4:p.Val310Phe
ENST00000371335.4:c.928G>T	ENSP00000360386.4:p.Val310Phe
ENST00000434600.6:c.928G>T	ENSP00000408411.2:p.Val310Phe
ENST00000486593.5:c.471G>T
NM_001122606.1:c.928G>T , LRG_749t3:c.928G>T	NP_001116078.1:p.Val310Phe
NM_002294.2:c.928G>T , LRG_749t1:c.928G>T	NP_002285.1:p.Val310Phe
NM_013995.2:c.928G>T , LRG_749t2:c.928G>T	NP_054701.1:p.Val310Phe
NM_002294.3:c.928G>T MANE Select	NP_002285.1:p.Val310Phe