Canonical Allele Identifier: CA339926

Gene: LRRK2

Linked Data

• ClinVar Variation Id: 1940
• ClinVar RCV Id: RCV000002017 ; RCV000325492 ; RCV000622347 ; RCV001195216 ; RCV001836691 ; RCV003993728 ; RCV003407254
• dbSNP Id: rs34637584
• ExAC: 12:40734202 G / A
• gnomAD v2: 12-40734202-G-A
• gnomAD v3: 12-40340400-G-A
• gnomAD v4: 12-40340400-G-A
• MyVariant Identifiers: chr12:g.40734202G>A (hg19) ; chr12:g.40340400G>A (hg38)
• PubMed: PMID:15541309 ; PMID:15680455 ; PMID:15680456 ; PMID:15680457 ; PMID:15726496 ; PMID:15732108 ; PMID:15811455 ; PMID:15852371 ; PMID:15929036 ; PMID:16102999 ; PMID:16145815 ; PMID:16157901 ; PMID:16240353 ; PMID:16269541 ; PMID:16311269 ; PMID:16401756 ; PMID:16436781 ; PMID:16436782 ; PMID:16533964 ; PMID:16728648 ; PMID:16960813 ; PMID:16966502 ; PMID:17050822 ; PMID:17060595 ; PMID:17200152 ; PMID:17215492 ; PMID:17353388 ; PMID:17938369 ; PMID:18213618 ; PMID:18704525 ; PMID:18981379 ; PMID:19020907 ; PMID:19283415 ; PMID:20008657 ; PMID:20301387 ; PMID:21115957 ; PMID:23075850 ; PMID:24243757 ; PMID:25330418 ; PMID:28103901

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40340400G>A , CM000674.2:g.40340400G>A	GRCh38
NC_000012.11:g.40734202G>A , CM000674.1:g.40734202G>A	GRCh37
NC_000012.10:g.39020469G>A	NCBI36
NG_011709.1:g.120390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298910.12:c.6055G>A MANE Select	ENSP00000298910.7:p.Gly2019Ser
ENST00000679360.1:c.*4964G>A	ENSP00000505368.1:n.*4964G>A
ENST00000679532.1:c.1829G>A
ENST00000680018.1:c.1500G>A	ENSP00000505347.1:n.1500G>A
ENST00000680422.1:c.1700G>A
ENST00000680425.1:c.1222G>A	ENSP00000506459.1:n.1222G>A
ENST00000680453.1:c.1512G>A
ENST00000680790.1:c.5800G>A	ENSP00000505335.1:p.Gly1934Ser
ENST00000681136.1:n.2039G>A
ENST00000681696.1:c.1738G>A	ENSP00000505871.1:p.Gly580Ser
ENST00000298910.11:c.6055G>A	ENSP00000298910.7:p.Gly2019Ser
ENST00000430804.5:c.3351G>A
ENST00000479187.5:n.2736G>A
NM_198578.3:c.6055G>A	NP_940980.3:p.Gly2019Ser
XM_005268629.2:c.6055G>A	XP_005268686.1:p.Gly2019Ser
XM_011537877.1:c.6055G>A	XP_011536179.1:p.Gly2019Ser
XM_011537878.1:c.6055G>A	XP_011536180.1:p.Gly2019Ser
XM_011537879.1:c.4852G>A	XP_011536181.1:p.Gly1618Ser
XM_005268629.4:c.6055G>A	XP_005268686.1:p.Gly2019Ser
XM_011537877.3:c.6055G>A	XP_011536179.1:p.Gly2019Ser
XM_017018787.1:c.2971G>A	XP_016874276.1:p.Gly991Ser
XM_017018788.2:c.2317G>A	XP_016874277.1:p.Gly773Ser
XM_024448833.1:c.4852G>A	XP_024304601.1:p.Gly1618Ser
NM_198578.4:c.6055G>A MANE Select	NP_940980.4:p.Gly2019Ser