Canonical Allele Identifier: CA6514686

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 702228
• ClinVar RCV Id: RCV001426456 ; RCV002363272
• dbSNP Id: rs369306296
• ExAC: 12:40745382 G / A
• gnomAD v2: 12-40745382-G-A
• gnomAD v4: 12-40351580-G-A
• MyVariant Identifiers: chr12:g.40745382G>A (hg19) ; chr12:g.40351580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40351580G>A , CM000674.2:g.40351580G>A	GRCh38
NC_000012.11:g.40745382G>A , CM000674.1:g.40745382G>A	GRCh37
NC_000012.10:g.39031649G>A	NCBI36
NG_011709.1:g.131570G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298910.12:c.6423G>A MANE Select	ENSP00000298910.7:p.Thr2141=
ENST00000636518.1:c.220G>A
ENST00000679360.1:c.*5332G>A	ENSP00000505368.1:n.*5332G>A
ENST00000679532.1:c.2197G>A
ENST00000679683.1:c.213G>A
ENST00000680018.1:c.1868G>A	ENSP00000505347.1:n.1868G>A
ENST00000680422.1:c.2068G>A
ENST00000680425.1:c.1590G>A	ENSP00000506459.1:n.1590G>A
ENST00000680453.1:c.1880G>A
ENST00000680790.1:c.6168G>A	ENSP00000505335.1:p.Thr2056=
ENST00000681136.1:n.2407G>A
ENST00000681696.1:c.2106G>A	ENSP00000505871.1:p.Thr702=
ENST00000298910.11:c.6423G>A	ENSP00000298910.7:p.Thr2141=
ENST00000430804.5:c.3719G>A
ENST00000479187.5:n.3104G>A
NM_198578.3:c.6423G>A	NP_940980.3:p.Thr2141=
XM_005268629.2:c.6423G>A	XP_005268686.1:p.Thr2141=
XM_011537877.1:c.6423G>A	XP_011536179.1:p.Thr2141=
XM_011537878.1:c.6423G>A	XP_011536180.1:p.Thr2141=
XM_011537879.1:c.5220G>A	XP_011536181.1:p.Thr1740=
XM_005268629.4:c.6423G>A	XP_005268686.1:p.Thr2141=
XM_011537877.3:c.6423G>A	XP_011536179.1:p.Thr2141=
XM_017018787.1:c.3339G>A	XP_016874276.1:p.Thr1113=
XM_017018788.2:c.2685G>A	XP_016874277.1:p.Thr895=
XM_024448833.1:c.5220G>A	XP_024304601.1:p.Thr1740=
NM_198578.4:c.6423G>A MANE Select	NP_940980.4:p.Thr2141=