Canonical Allele Identifier: CA6514699

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1753729
• ClinVar RCV Id: RCV002361962
• dbSNP Id: rs748496433
• ExAC: 12:40745435 A / G
• gnomAD v2: 12-40745435-A-G
• gnomAD v4: 12-40351633-A-G
• MyVariant Identifiers: chr12:g.40745435A>G (hg19) ; chr12:g.40351633A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351633A>G , CM000674.2:g.40351633A>G	GRCh38
NC_000012.11:g.40745435A>G , CM000674.1:g.40745435A>G	GRCh37
NC_000012.10:g.39031702A>G	NCBI36
NG_011709.1:g.131623A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6476A>G MANE Select	ENSP00000298910.7:p.His2159Arg
ENST00000636518.1:c.273A>G
ENST00000679360.1:c.*5385A>G	ENSP00000505368.1:n.*5385A>G
ENST00000679532.1:c.2250A>G
ENST00000679683.1:c.266A>G
ENST00000680018.1:c.1921A>G	ENSP00000505347.1:n.1921A>G
ENST00000680422.1:c.2121A>G
ENST00000680425.1:c.1643A>G	ENSP00000506459.1:n.1643A>G
ENST00000680453.1:c.1933A>G
ENST00000680790.1:c.6221A>G	ENSP00000505335.1:p.His2074Arg
ENST00000681136.1:n.2460A>G
ENST00000681696.1:c.2159A>G	ENSP00000505871.1:p.His720Arg
ENST00000298910.11:c.6476A>G	ENSP00000298910.7:p.His2159Arg
ENST00000430804.5:c.3772A>G
ENST00000479187.5:n.3157A>G
NM_198578.3:c.6476A>G	NP_940980.3:p.His2159Arg
XM_005268629.2:c.6476A>G	XP_005268686.1:p.His2159Arg
XM_011537877.1:c.6476A>G	XP_011536179.1:p.His2159Arg
XM_011537878.1:c.6476A>G	XP_011536180.1:p.His2159Arg
XM_011537879.1:c.5273A>G	XP_011536181.1:p.His1758Arg
XM_005268629.4:c.6476A>G	XP_005268686.1:p.His2159Arg
XM_011537877.3:c.6476A>G	XP_011536179.1:p.His2159Arg
XM_017018787.1:c.3392A>G	XP_016874276.1:p.His1131Arg
XM_017018788.2:c.2738A>G	XP_016874277.1:p.His913Arg
XM_024448833.1:c.5273A>G	XP_024304601.1:p.His1758Arg
NM_198578.4:c.6476A>G MANE Select	NP_940980.4:p.His2159Arg