Canonical Allele Identifier: CA16620189
Gene: PRRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1064793851
MyVariant Identifiers: chr16:g.29824979_29824982del (hg19) chr16:g.29813658_29813661del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813658_29813661del , CM000678.2:g.29813658_29813661del GRCh38
NC_000016.9:g.29824979_29824982del , CM000678.1:g.29824979_29824982del GRCh37
NC_000016.8:g.29732480_29732483del NCBI36
NG_032039.1:g.6571_6574del

Transcript Alleles

HGVS Amino-acid change
ENST00000358758.12:c.604_607del MANE Select ENSP00000351608.7:p.Ser202HisfsTer26
ENST00000567551.2:c.339+265_339+268del ENSP00000489813.1:n.339+265_339+268del
ENST00000636019.1:n.88-28_88-25del
ENST00000636131.1:c.604_607del ENSP00000490390.1:p.Ser202HisfsTer26
ENST00000636619.1:c.604_607del ENSP00000489669.1:p.Ser202HisfsTer26
ENST00000637064.1:c.604_607del ENSP00000490826.1:p.Ser202HisfsTer26
ENST00000637290.1:c.340-28_340-25del ENSP00000490278.1:n.340-28_340-25del
ENST00000637403.1:c.604_607del ENSP00000489782.1:p.Ser202HisfsTer26
ENST00000637565.1:c.339+265_339+268del ENSP00000490207.1:n.339+265_339+268del
ENST00000647876.1:c.604_607del ENSP00000498021.1:p.Ser202HisfsTer26
ENST00000300797.7:c.604_607del ENSP00000300797.6:p.Ser202HisfsTer26
ENST00000358758.11:c.604_607del ENSP00000351608.7:p.Ser202HisfsTer26
ENST00000567551.1:n.453-28_453-25del
ENST00000567659.3:c.604_607del ENSP00000456226.1:p.Ser202HisfsTer26
ENST00000572820.2:c.604_607del ENSP00000458291.2:p.Ser202HisfsTer26
ENST00000609618.2:c.604_607del ENSP00000476774.2:p.Ser202HisfsTer26
NM_001256442.1:c.604_607del NP_001243371.1:p.Ser202HisfsTer26
NM_001256443.1:c.604_607del NP_001243372.1:p.Ser202HisfsTer26
NM_145239.2:c.604_607del NP_660282.2:p.Ser202HisfsTer26
XM_011545715.1:c.604_607del XP_011544017.1:p.Ser202HisfsTer26
XM_011545716.1:c.604_607del XP_011544018.1:p.Ser202HisfsTer26
XM_011545717.1:c.604_607del XP_011544019.1:p.Ser202HisfsTer26
XM_011545718.1:c.604_607del XP_011544020.1:p.Ser202HisfsTer26
XM_011545715.3:c.604_607del XP_011544017.1:p.Ser202HisfsTer26
XM_017022887.2:c.604_607del XP_016878376.1:p.Ser202HisfsTer26
XM_017022888.2:c.604_607del XP_016878377.1:p.Ser202HisfsTer26
XM_017022889.2:c.604_607del XP_016878378.1:p.Ser202HisfsTer26
NM_145239.3:c.604_607del MANE Select NP_660282.2:p.Ser202HisfsTer26
NM_001256442.2:c.604_607del NP_001243371.1:p.Ser202HisfsTer26
NM_001256443.2:c.604_607del NP_001243372.1:p.Ser202HisfsTer26
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