Canonical Allele Identifier: CA1139664643

Gene: PRRT2

Linked Data

• ClinVar Variation Id: 871890
• ClinVar RCV Id: RCV001092089
• dbSNP Id: rs1900098354

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813695_29813696insA , CM000678.2:g.29813695_29813696insA	GRCh38
NC_000016.9:g.29825016_29825017insA , CM000678.1:g.29825016_29825017insA	GRCh37
NC_000016.8:g.29732517_29732518insA	NCBI36
NG_032039.1:g.6608_6609insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.641_642insA MANE Select	ENSP00000351608.7:p.Arg217ProfsTer8
ENST00000567551.2:c.339+302_339+303insA	ENSP00000489813.1:n.339+302_339+303insA
ENST00000636019.1:n.97_98insA
ENST00000636131.1:c.641_642insA	ENSP00000490390.1:p.Arg217ProfsTer8
ENST00000636619.1:c.641_642insA	ENSP00000489669.1:p.Arg217ProfsTer8
ENST00000637064.1:c.641_642insA	ENSP00000490826.1:p.Arg217ProfsTer8
ENST00000637290.1:c.349_350insA	ENSP00000490278.1:p.Pro117HisfsTer?
ENST00000637403.1:c.641_642insA	ENSP00000489782.1:p.Arg217ProfsTer8
ENST00000637565.1:c.339+302_339+303insA	ENSP00000490207.1:n.339+302_339+303insA
ENST00000647876.1:c.641_642insA	ENSP00000498021.1:p.Arg217ProfsTer8
ENST00000300797.7:c.641_642insA	ENSP00000300797.6:p.Arg217ProfsTer8
ENST00000358758.11:c.641_642insA	ENSP00000351608.7:p.Arg217ProfsTer8
ENST00000567551.1:n.462_463insA
ENST00000567659.3:c.641_642insA	ENSP00000456226.1:p.Arg217ProfsTer8
ENST00000572820.2:c.641_642insA	ENSP00000458291.2:p.Arg217ProfsTer8
ENST00000609618.2:c.641_642insA	ENSP00000476774.2:p.Arg217ProfsTer8
NM_001256442.1:c.641_642insA	NP_001243371.1:p.Arg217ProfsTer8
NM_001256443.1:c.641_642insA	NP_001243372.1:p.Arg217ProfsTer8
NM_145239.2:c.641_642insA	NP_660282.2:p.Arg217ProfsTer8
XM_011545715.1:c.641_642insA	XP_011544017.1:p.Arg217ProfsTer8
XM_011545716.1:c.641_642insA	XP_011544018.1:p.Arg217ProfsTer8
XM_011545717.1:c.641_642insA	XP_011544019.1:p.Arg217ProfsTer8
XM_011545718.1:c.641_642insA	XP_011544020.1:p.Arg217ProfsTer8
XM_011545715.3:c.641_642insA	XP_011544017.1:p.Arg217ProfsTer8
XM_017022887.2:c.641_642insA	XP_016878376.1:p.Arg217ProfsTer8
XM_017022888.2:c.641_642insA	XP_016878377.1:p.Arg217ProfsTer8
XM_017022889.2:c.641_642insA	XP_016878378.1:p.Arg217ProfsTer8
NM_145239.3:c.641_642insA MANE Select	NP_660282.2:p.Arg217ProfsTer8
NM_001256442.2:c.641_642insA	NP_001243371.1:p.Arg217ProfsTer8
NM_001256443.2:c.641_642insA	NP_001243372.1:p.Arg217ProfsTer8