Canonical Allele Identifier: CA180354
Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 167544
dbSNP Id: rs11150573

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813805T>C , CM000678.2:g.29813805T>C GRCh38
NC_000016.9:g.29825126T>C , CM000678.1:g.29825126T>C GRCh37
NC_000016.8:g.29732627T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358758.12:c.751T>C MANE Select ENSP00000351608.7:p.Leu251=
ENST00000567551.2:c.339+412T>C ENSP00000489813.1:n.339+412T>C
ENST00000636131.1:c.751T>C ENSP00000490390.1:p.Leu251=
ENST00000636619.1:c.724+27T>C ENSP00000489669.1:n.724+27T>C
ENST00000637064.1:c.751T>C ENSP00000490826.1:p.Leu251=
ENST00000637290.1:c.*66T>C ENSP00000490278.1:n.*66T>C
ENST00000637403.1:c.721+30T>C ENSP00000489782.1:n.721+30T>C
ENST00000637565.1:c.339+412T>C ENSP00000490207.1:n.339+412T>C
ENST00000647876.1:c.751T>C ENSP00000498021.1:p.Leu251=
ENST00000300797.7:c.751T>C ENSP00000300797.6:p.Leu251=
ENST00000358758.11:c.751T>C ENSP00000351608.7:p.Leu251=
ENST00000567659.3:c.751T>C ENSP00000456226.1:p.Leu251=
ENST00000572820.2:c.751T>C ENSP00000458291.2:p.Leu251=
ENST00000609618.2:c.751T>C ENSP00000476774.2:p.Leu251=
XM_011545715.1:c.751T>C XP_011544017.1:p.Leu251=
XM_011545716.1:c.751T>C XP_011544018.1:p.Leu251=
XM_011545717.1:c.751T>C XP_011544019.1:p.Leu251=
XM_011545718.1:c.751T>C XP_011544020.1:p.Leu251=
XM_011545715.3:c.751T>C XP_011544017.1:p.Leu251=
XM_017022887.2:c.751T>C XP_016878376.1:p.Leu251=
XM_017022888.2:c.751T>C XP_016878377.1:p.Leu251=
XM_017022889.2:c.751T>C XP_016878378.1:p.Leu251=
NM_145239.3:c.751T>C MANE Select NP_660282.2:p.Leu251=
NM_001256442.2:c.751T>C NP_001243371.1:p.Leu251=
NM_001256443.2:c.751T>C NP_001243372.1:p.Leu251=