Canonical Allele Identifier: CA10505375

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 650063
• ClinVar RCV Id: RCV000805144 ; RCV002440711
• dbSNP Id: rs769378984
• ExAC: X:119602996 G / A
• gnomAD v2: X-119602996-G-A
• gnomAD v3: X-120469141-G-A
• gnomAD v4: X-120469141-G-A
• MyVariant Identifiers: chrX:g.119602996G>A (hg19) ; chrX:g.120469141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120469141G>A , CM000685.2:g.120469141G>A	GRCh38
NC_000023.10:g.119602996G>A , CM000685.1:g.119602996G>A	GRCh37
NC_000023.9:g.119487024G>A	NCBI36
NG_007995.1:g.5209C>T , LRG_749:g.5209C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.29C>T	ENSP00000516464.1:p.Pro10Leu
ENST00000200639.9:c.29C>T MANE Select	ENSP00000200639.4:p.Pro10Leu
ENST00000200639.8:c.29C>T	ENSP00000200639.4:p.Pro10Leu
ENST00000371335.4:c.29C>T	ENSP00000360386.4:p.Pro10Leu
ENST00000434600.6:c.29C>T	ENSP00000408411.2:p.Pro10Leu
NM_001122606.1:c.29C>T , LRG_749t3:c.29C>T	NP_001116078.1:p.Pro10Leu
NM_002294.2:c.29C>T , LRG_749t1:c.29C>T	NP_002285.1:p.Pro10Leu
NM_013995.2:c.29C>T , LRG_749t2:c.29C>T	NP_054701.1:p.Pro10Leu
NM_002294.3:c.29C>T MANE Select	NP_002285.1:p.Pro10Leu