Canonical Allele Identifier: CA414400263

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 1452436
• ClinVar RCV Id: RCV002037657
• dbSNP Id: rs104894858
• MyVariant Identifiers: chrX:g.119576454C>G (hg19) ; chrX:g.120442599C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000706600.1:c.928G>C	ENSP00000516464.1:p.Val310Leu
ENST00000200639.9:c.928G>C MANE Select	ENSP00000200639.4:p.Val310Leu
ENST00000200639.8:c.928G>C	ENSP00000200639.4:p.Val310Leu
ENST00000371335.4:c.928G>C	ENSP00000360386.4:p.Val310Leu
ENST00000434600.6:c.928G>C	ENSP00000408411.2:p.Val310Leu
ENST00000486593.5:c.471G>C
NM_001122606.1:c.928G>C , LRG_749t3:c.928G>C	NP_001116078.1:p.Val310Leu
NM_002294.2:c.928G>C , LRG_749t1:c.928G>C	NP_002285.1:p.Val310Leu
NM_013995.2:c.928G>C , LRG_749t2:c.928G>C	NP_054701.1:p.Val310Leu
NM_002294.3:c.928G>C MANE Select	NP_002285.1:p.Val310Leu