Canonical Allele Identifier: CA518401891

Gene: LAMP2

Linked Data

• ClinVar Variation Id: 2799200
• ClinVar RCV Id: RCV003622443 ; RCV003919311
• MyVariant Identifiers: chrX:g.119581858T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120448003T>C , CM000685.2:g.120448003T>C	GRCh38
NC_000023.10:g.119581858T>C , CM000685.1:g.119581858T>C	GRCh37
NC_000023.9:g.119465886T>C	NCBI36
NG_007995.1:g.26347A>G , LRG_749:g.26347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706600.1:c.579A>G	ENSP00000516464.1:p.Lys193=
ENST00000200639.9:c.579A>G MANE Select	ENSP00000200639.4:p.Lys193=
ENST00000200639.8:c.579A>G	ENSP00000200639.4:p.Lys193=
ENST00000371335.4:c.579A>G	ENSP00000360386.4:p.Lys193=
ENST00000434600.6:c.579A>G	ENSP00000408411.2:p.Lys193=
ENST00000486593.5:c.122A>G
NM_001122606.1:c.579A>G , LRG_749t3:c.579A>G	NP_001116078.1:p.Lys193=
NM_002294.2:c.579A>G , LRG_749t1:c.579A>G	NP_002285.1:p.Lys193=
NM_013995.2:c.579A>G , LRG_749t2:c.579A>G	NP_054701.1:p.Lys193=
NM_002294.3:c.579A>G MANE Select	NP_002285.1:p.Lys193=