Canonical Allele Identifier: CA414401548

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 914159
• ClinVar RCV Id: RCV001168184
• dbSNP Id: rs2058604992
• MyVariant Identifiers: chrX:g.119581808G>T (hg19) ; chrX:g.120447953G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120447953G>T , CM000685.2:g.120447953G>T	GRCh38
NC_000023.10:g.119581808G>T , CM000685.1:g.119581808G>T	GRCh37
NC_000023.9:g.119465836G>T	NCBI36
NG_007995.1:g.26397C>A , LRG_749:g.26397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.629C>A	ENSP00000516464.1:p.Thr210Lys
ENST00000200639.9:c.629C>A MANE Select	ENSP00000200639.4:p.Thr210Lys
ENST00000200639.8:c.629C>A	ENSP00000200639.4:p.Thr210Lys
ENST00000371335.4:c.629C>A	ENSP00000360386.4:p.Thr210Lys
ENST00000434600.6:c.629C>A	ENSP00000408411.2:p.Thr210Lys
ENST00000486593.5:c.172C>A
NM_001122606.1:c.629C>A , LRG_749t3:c.629C>A	NP_001116078.1:p.Thr210Lys
NM_002294.2:c.629C>A , LRG_749t1:c.629C>A	NP_002285.1:p.Thr210Lys
NM_013995.2:c.629C>A , LRG_749t2:c.629C>A	NP_054701.1:p.Thr210Lys
NM_002294.3:c.629C>A MANE Select	NP_002285.1:p.Thr210Lys