Canonical Allele Identifier: CA2216294379
Gene: PRRT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29814111C= , CM000678.2:g.29814111C= GRCh38
NC_000016.9:g.29825432C= , CM000678.1:g.29825432C= GRCh37
NC_000016.8:g.29732933C= NCBI36
NG_032039.1:g.7024C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000358758.12:c.879+178C= MANE Select ENSP00000351608.7:n.879+178C=
ENST00000567551.2:c.340-222C= ENSP00000489813.1:n.340-222C=
ENST00000636131.1:c.*55+102C= ENSP00000490390.1:n.*55+102C=
ENST00000636619.1:c.725-222C= ENSP00000489669.1:n.725-222C=
ENST00000637064.1:c.879+178C= ENSP00000490826.1:n.879+178C=
ENST00000637290.1:c.*194+178C= ENSP00000490278.1:n.*194+178C=
ENST00000637403.1:c.722-222C= ENSP00000489782.1:n.722-222C=
ENST00000637565.1:c.340-233C= ENSP00000490207.1:n.340-233C=
ENST00000647876.1:c.*157C= ENSP00000498021.1:n.*157C=
ENST00000300797.7:c.*157C= ENSP00000300797.6:n.*157C=
ENST00000358758.11:c.879+178C= ENSP00000351608.7:n.879+178C=
ENST00000567659.3:c.879+178C= ENSP00000456226.1:n.879+178C=
ENST00000572820.2:c.879+178C= ENSP00000458291.2:n.879+178C=
ENST00000609618.2:c.879+178C= ENSP00000476774.2:n.879+178C=
NM_001256442.1:c.879+178C= NP_001243371.1:n.879+178C=
NM_001256443.1:c.*157C= NP_001243372.1:n.*157C=
NM_145239.2:c.879+178C= NP_660282.2:n.879+178C=
XM_011545715.1:c.879+178C= XP_011544017.1:n.879+178C=
XM_011545716.1:c.879+178C= XP_011544018.1:n.879+178C=
XM_011545717.1:c.879+178C= XP_011544019.1:n.879+178C=
XM_011545718.1:c.879+178C= XP_011544020.1:n.879+178C=
XM_011545715.3:c.879+178C= XP_011544017.1:n.879+178C=
XM_017022887.2:c.879+178C= XP_016878376.1:n.879+178C=
XM_017022888.2:c.879+178C= XP_016878377.1:n.879+178C=
XM_017022889.2:c.879+178C= XP_016878378.1:n.879+178C=
NM_145239.3:c.879+178C= MANE Select NP_660282.2:n.879+178C=
NM_001256442.2:c.879+178C= NP_001243371.1:n.879+178C=
NM_001256443.2:c.*157C= NP_001243372.1:n.*157C=