Canonical Allele Identifier: CA395480201
Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 808028
dbSNP Id: rs1446585759

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813920C>T , CM000678.2:g.29813920C>T GRCh38
NC_000016.9:g.29825241C>T , CM000678.1:g.29825241C>T GRCh37
NC_000016.8:g.29732742C>T NCBI36
NG_032039.1:g.6833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000358758.12:c.866C>T MANE Select ENSP00000351608.7:p.Ala289Val
ENST00000567551.2:c.340-413C>T ENSP00000489813.1:n.340-413C>T
ENST00000636131.1:c.866C>T ENSP00000490390.1:p.Ala289Val
ENST00000636619.1:c.724+142C>T ENSP00000489669.1:n.724+142C>T
ENST00000637064.1:c.866C>T ENSP00000490826.1:p.Ala289Val
ENST00000637290.1:c.*181C>T ENSP00000490278.1:n.*181C>T
ENST00000637403.1:c.721+145C>T ENSP00000489782.1:n.721+145C>T
ENST00000637565.1:c.340-424C>T ENSP00000490207.1:n.340-424C>T
ENST00000647876.1:c.866C>T ENSP00000498021.1:p.Ala289Val
ENST00000300797.7:c.866C>T ENSP00000300797.6:p.Ala289Val
ENST00000358758.11:c.866C>T ENSP00000351608.7:p.Ala289Val
ENST00000567659.3:c.866C>T ENSP00000456226.1:p.Ala289Val
ENST00000572820.2:c.866C>T ENSP00000458291.2:p.Ala289Val
ENST00000609618.2:c.866C>T ENSP00000476774.2:p.Ala289Val
NM_001256442.1:c.866C>T NP_001243371.1:p.Ala289Val
NM_001256443.1:c.866C>T NP_001243372.1:p.Ala289Val
NM_145239.2:c.866C>T NP_660282.2:p.Ala289Val
XM_011545715.1:c.866C>T XP_011544017.1:p.Ala289Val
XM_011545716.1:c.866C>T XP_011544018.1:p.Ala289Val
XM_011545717.1:c.866C>T XP_011544019.1:p.Ala289Val
XM_011545718.1:c.866C>T XP_011544020.1:p.Ala289Val
XM_011545715.3:c.866C>T XP_011544017.1:p.Ala289Val
XM_017022887.2:c.866C>T XP_016878376.1:p.Ala289Val
XM_017022888.2:c.866C>T XP_016878377.1:p.Ala289Val
XM_017022889.2:c.866C>T XP_016878378.1:p.Ala289Val
NM_145239.3:c.866C>T MANE Select NP_660282.2:p.Ala289Val
NM_001256442.2:c.866C>T NP_001243371.1:p.Ala289Val
NM_001256443.2:c.866C>T NP_001243372.1:p.Ala289Val