Canonical Allele Identifier: CA259997
Gene: PRRT2 HGNC NCBI

Linked Data

dbSNP Id: rs730882065
MyVariant Identifiers: chr16:g.29824889_29824892del (hg19) chr16:g.29813568_29813571del (hg38)
PubMed: PMID:22101681
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813568_29813571del , CM000678.2:g.29813568_29813571del GRCh38
NC_000016.9:g.29824889_29824892del , CM000678.1:g.29824889_29824892del GRCh37
NC_000016.8:g.29732390_29732393del NCBI36
NG_032039.1:g.6481_6484del

Transcript Alleles

HGVS Amino-acid change
ENST00000358758.12:c.514_517del MANE Select ENSP00000351608.7:p.Ser172ArgfsTer3
ENST00000567551.2:c.339+175_339+178del ENSP00000489813.1:n.339+175_339+178del
ENST00000636019.1:n.88-118_88-115del
ENST00000636131.1:c.514_517del ENSP00000490390.1:p.Ser172ArgfsTer3
ENST00000636619.1:c.514_517del ENSP00000489669.1:p.Ser172ArgfsTer3
ENST00000637064.1:c.514_517del ENSP00000490826.1:p.Ser172ArgfsTer3
ENST00000637290.1:c.340-118_340-115del ENSP00000490278.1:n.340-118_340-115del
ENST00000637403.1:c.514_517del ENSP00000489782.1:p.Ser172ArgfsTer3
ENST00000637565.1:c.339+175_339+178del ENSP00000490207.1:n.339+175_339+178del
ENST00000647876.1:c.514_517del ENSP00000498021.1:p.Ser172ArgfsTer3
ENST00000300797.7:c.514_517del ENSP00000300797.6:p.Ser172ArgfsTer3
ENST00000358758.11:c.514_517del ENSP00000351608.7:p.Ser172ArgfsTer3
ENST00000567551.1:n.453-118_453-115del
ENST00000567659.3:c.514_517del ENSP00000456226.1:p.Ser172ArgfsTer3
ENST00000572820.2:c.514_517del ENSP00000458291.2:p.Ser172ArgfsTer3
ENST00000609618.2:c.514_517del ENSP00000476774.2:p.Ser172ArgfsTer3
NM_001256442.1:c.514_517del NP_001243371.1:p.Ser172ArgfsTer3
NM_001256443.1:c.514_517del NP_001243372.1:p.Ser172ArgfsTer3
NM_145239.2:c.514_517del NP_660282.2:p.Ser172ArgfsTer3
XM_011545715.1:c.514_517del XP_011544017.1:p.Ser172ArgfsTer3
XM_011545716.1:c.514_517del XP_011544018.1:p.Ser172ArgfsTer3
XM_011545717.1:c.514_517del XP_011544019.1:p.Ser172ArgfsTer3
XM_011545718.1:c.514_517del XP_011544020.1:p.Ser172ArgfsTer3
XM_011545715.3:c.514_517del XP_011544017.1:p.Ser172ArgfsTer3
XM_017022887.2:c.514_517del XP_016878376.1:p.Ser172ArgfsTer3
XM_017022888.2:c.514_517del XP_016878377.1:p.Ser172ArgfsTer3
XM_017022889.2:c.514_517del XP_016878378.1:p.Ser172ArgfsTer3
NM_145239.3:c.514_517del MANE Select NP_660282.2:p.Ser172ArgfsTer3
NM_001256442.2:c.514_517del NP_001243371.1:p.Ser172ArgfsTer3
NM_001256443.2:c.514_517del NP_001243372.1:p.Ser172ArgfsTer3
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