Canonical Allele Identifier: CA2216294298
Gene: PRRT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813947G= , CM000678.2:g.29813947G= GRCh38
NC_000016.9:g.29825268G= , CM000678.1:g.29825268G= GRCh37
NC_000016.8:g.29732769G= NCBI36
NG_032039.1:g.6860G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000358758.12:c.879+14G= MANE Select ENSP00000351608.7:n.879+14G=
ENST00000567551.2:c.340-386G= ENSP00000489813.1:n.340-386G=
ENST00000636131.1:c.893G= ENSP00000490390.1:p.Gly298=
ENST00000636619.1:c.724+169G= ENSP00000489669.1:n.724+169G=
ENST00000637064.1:c.879+14G= ENSP00000490826.1:n.879+14G=
ENST00000637290.1:c.*194+14G= ENSP00000490278.1:n.*194+14G=
ENST00000637403.1:c.721+172G= ENSP00000489782.1:n.721+172G=
ENST00000637565.1:c.340-397G= ENSP00000490207.1:n.340-397G=
ENST00000647876.1:c.893G= ENSP00000498021.1:p.Gly298=
ENST00000300797.7:c.893G= ENSP00000300797.6:p.Gly298=
ENST00000358758.11:c.879+14G= ENSP00000351608.7:n.879+14G=
ENST00000567659.3:c.879+14G= ENSP00000456226.1:n.879+14G=
ENST00000572820.2:c.879+14G= ENSP00000458291.2:n.879+14G=
ENST00000609618.2:c.879+14G= ENSP00000476774.2:n.879+14G=
NM_001256442.1:c.879+14G= NP_001243371.1:n.879+14G=
NM_001256443.1:c.893G= NP_001243372.1:p.Gly298=
NM_145239.2:c.879+14G= NP_660282.2:n.879+14G=
XM_011545715.1:c.879+14G= XP_011544017.1:n.879+14G=
XM_011545716.1:c.879+14G= XP_011544018.1:n.879+14G=
XM_011545717.1:c.879+14G= XP_011544019.1:n.879+14G=
XM_011545718.1:c.879+14G= XP_011544020.1:n.879+14G=
XM_011545715.3:c.879+14G= XP_011544017.1:n.879+14G=
XM_017022887.2:c.879+14G= XP_016878376.1:n.879+14G=
XM_017022888.2:c.879+14G= XP_016878377.1:n.879+14G=
XM_017022889.2:c.879+14G= XP_016878378.1:n.879+14G=
NM_145239.3:c.879+14G= MANE Select NP_660282.2:n.879+14G=
NM_001256442.2:c.879+14G= NP_001243371.1:n.879+14G=
NM_001256443.2:c.893G= NP_001243372.1:p.Gly298=