Canonical Allele Identifier: CA7994561

Gene: PRRT2

Linked Data

• dbSNP Id: rs587778771
• ExAC: 16:29825015 G / GCC
• gnomAD v2: 16-29825015-G-GCC
• gnomAD v4: 16-29813694-G-GCC
• COSMIC: COSM5105906 ; COSM6039876 ; COSM6039877
• MyVariant Identifiers: chr16:g.29825016_29825017insCC (hg19) ; chr16:g.29825015_29825016insCC (hg19) ; chr16:g.29813694_29813695insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813702_29813703dup , CM000678.2:g.29813702_29813703dup	GRCh38
NC_000016.9:g.29825023_29825024dup , CM000678.1:g.29825023_29825024dup	GRCh37
NC_000016.8:g.29732524_29732525dup	NCBI36
NG_032039.1:g.6615_6616dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.648_649dup MANE Select	ENSP00000351608.7:p.Arg217ProfsTer13
ENST00000567551.2:c.339+309_339+310dup	ENSP00000489813.1:n.339+309_339+310dup
ENST00000636019.1:n.104_105dup
ENST00000636131.1:c.648_649dup	ENSP00000490390.1:p.Arg217ProfsTer13
ENST00000636619.1:c.648_649dup	ENSP00000489669.1:p.Arg217ProfsTer13
ENST00000637064.1:c.648_649dup	ENSP00000490826.1:p.Arg217ProfsTer13
ENST00000637290.1:c.356_357dup	ENSP00000490278.1:p.Glu120ProfsTer8
ENST00000637403.1:c.648_649dup	ENSP00000489782.1:p.Arg217ProfsTer13
ENST00000637565.1:c.339+309_339+310dup	ENSP00000490207.1:n.339+309_339+310dup
ENST00000647876.1:c.648_649dup	ENSP00000498021.1:p.Arg217ProfsTer13
ENST00000300797.7:c.648_649dup	ENSP00000300797.6:p.Arg217ProfsTer13
ENST00000358758.11:c.648_649dup	ENSP00000351608.7:p.Arg217ProfsTer13
ENST00000567551.1:n.469_470dup
ENST00000567659.3:c.648_649dup	ENSP00000456226.1:p.Arg217ProfsTer13
ENST00000572820.2:c.648_649dup	ENSP00000458291.2:p.Arg217ProfsTer13
ENST00000609618.2:c.648_649dup	ENSP00000476774.2:p.Arg217ProfsTer13
NM_001256442.1:c.648_649dup	NP_001243371.1:p.Arg217ProfsTer13
NM_001256443.1:c.648_649dup	NP_001243372.1:p.Arg217ProfsTer13
NM_145239.2:c.648_649dup	NP_660282.2:p.Arg217ProfsTer13
XM_011545715.1:c.648_649dup	XP_011544017.1:p.Arg217ProfsTer13
XM_011545716.1:c.648_649dup	XP_011544018.1:p.Arg217ProfsTer13
XM_011545717.1:c.648_649dup	XP_011544019.1:p.Arg217ProfsTer13
XM_011545718.1:c.648_649dup	XP_011544020.1:p.Arg217ProfsTer13
XM_011545715.3:c.648_649dup	XP_011544017.1:p.Arg217ProfsTer13
XM_017022887.2:c.648_649dup	XP_016878376.1:p.Arg217ProfsTer13
XM_017022888.2:c.648_649dup	XP_016878377.1:p.Arg217ProfsTer13
XM_017022889.2:c.648_649dup	XP_016878378.1:p.Arg217ProfsTer13
NM_145239.3:c.648_649dup MANE Select	NP_660282.2:p.Arg217ProfsTer13
NM_001256442.2:c.648_649dup	NP_001243371.1:p.Arg217ProfsTer13
NM_001256443.2:c.648_649dup	NP_001243372.1:p.Arg217ProfsTer13