Canonical Allele Identifier: CA343663

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 39227
• ClinVar RCV Id: RCV000032501
• dbSNP Id: rs201271001
• ExAC: 12:40745387 G / A
• gnomAD v2: 12-40745387-G-A
• gnomAD v3: 12-40351585-G-A
• gnomAD v4: 12-40351585-G-A
• COSMIC: COSM312656 ; COSM312657
• MyVariant Identifiers: chr12:g.40745387G>A (hg19) ; chr12:g.40351585G>A (hg38)
• PubMed: PMID:20301387

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351585G>A , CM000674.2:g.40351585G>A	GRCh38
NC_000012.11:g.40745387G>A , CM000674.1:g.40745387G>A	GRCh37
NC_000012.10:g.39031654G>A	NCBI36
NG_011709.1:g.131575G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6428G>A MANE Select	ENSP00000298910.7:p.Arg2143His
ENST00000636518.1:c.225G>A
ENST00000679360.1:c.*5337G>A	ENSP00000505368.1:n.*5337G>A
ENST00000679532.1:c.2202G>A
ENST00000679683.1:c.218G>A
ENST00000680018.1:c.1873G>A	ENSP00000505347.1:n.1873G>A
ENST00000680422.1:c.2073G>A
ENST00000680425.1:c.1595G>A	ENSP00000506459.1:n.1595G>A
ENST00000680453.1:c.1885G>A
ENST00000680790.1:c.6173G>A	ENSP00000505335.1:p.Arg2058His
ENST00000681136.1:n.2412G>A
ENST00000681696.1:c.2111G>A	ENSP00000505871.1:p.Arg704His
ENST00000298910.11:c.6428G>A	ENSP00000298910.7:p.Arg2143His
ENST00000430804.5:c.3724G>A
ENST00000479187.5:n.3109G>A
NM_198578.3:c.6428G>A	NP_940980.3:p.Arg2143His
XM_005268629.2:c.6428G>A	XP_005268686.1:p.Arg2143His
XM_011537877.1:c.6428G>A	XP_011536179.1:p.Arg2143His
XM_011537878.1:c.6428G>A	XP_011536180.1:p.Arg2143His
XM_011537879.1:c.5225G>A	XP_011536181.1:p.Arg1742His
XM_005268629.4:c.6428G>A	XP_005268686.1:p.Arg2143His
XM_011537877.3:c.6428G>A	XP_011536179.1:p.Arg2143His
XM_017018787.1:c.3344G>A	XP_016874276.1:p.Arg1115His
XM_017018788.2:c.2690G>A	XP_016874277.1:p.Arg897His
XM_024448833.1:c.5225G>A	XP_024304601.1:p.Arg1742His
NM_198578.4:c.6428G>A MANE Select	NP_940980.4:p.Arg2143His