Canonical Allele Identifier: CA317045

Gene: PRRT2

Linked Data

• ClinVar Variation Id: 206696
• ClinVar RCV Id: RCV000188780 ; RCV000544016 ; RCV002247606 ; RCV002510567
• dbSNP Id: rs796052941
• gnomAD v2: 16-29825739-TG-T
• gnomAD v3: 16-29814418-TG-T
• gnomAD v4: 16-29814418-TG-T
• COSMIC: COSM5172489
• MyVariant Identifiers: chr16:g.29825745del (hg19) ; chr16:g.29825740del (hg19) ; chr16:g.29814424del (hg38) ; chr16:g.29814419del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814424del , CM000678.2:g.29814424del	GRCh38
NC_000016.9:g.29825745del , CM000678.1:g.29825745del	GRCh37
NC_000016.8:g.29733246del	NCBI36
NG_032039.1:g.7337del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.971del MANE Select	ENSP00000351608.7:p.Gly324GlufsTer13
ENST00000567551.2:c.431del	ENSP00000489813.1:p.Gly144GlufsTer?
ENST00000636131.1:c.*147del	ENSP00000490390.1:n.*147del
ENST00000636619.1:c.816del	ENSP00000489669.1:p.Ser273ValfsTer17
ENST00000637064.1:c.971del	ENSP00000490826.1:p.Gly324GlufsTer13
ENST00000637290.1:c.*286del	ENSP00000490278.1:n.*286del
ENST00000637403.1:c.813del	ENSP00000489782.1:p.Ser272ValfsTer17
ENST00000637565.1:c.420del	ENSP00000490207.1:p.Ser141ValfsTer17
ENST00000647876.1:c.*470del	ENSP00000498021.1:n.*470del
ENST00000300797.7:c.*470del	ENSP00000300797.6:n.*470del
ENST00000358758.11:c.971del	ENSP00000351608.7:p.Gly324GlufsTer13
ENST00000567659.3:c.971del	ENSP00000456226.1:p.Gly324GlufsTer13
ENST00000572820.2:c.971del	ENSP00000458291.2:p.Gly324GlufsTer13
ENST00000609618.2:c.960del	ENSP00000476774.2:p.Ser321ValfsTer18
NM_001256442.1:c.971del	NP_001243371.1:p.Gly324GlufsTer13
NM_001256443.1:c.*470del	NP_001243372.1:n.*470del
NM_145239.2:c.971del	NP_660282.2:p.Gly324GlufsTer13
XM_011545715.1:c.971del	XP_011544017.1:p.Gly324GlufsTer13
XM_011545716.1:c.971del	XP_011544018.1:p.Gly324GlufsTer13
XM_011545717.1:c.971del	XP_011544019.1:p.Gly324GlufsTer13
XM_011545718.1:c.971del	XP_011544020.1:p.Gly324GlufsTer13
XM_011545715.3:c.971del	XP_011544017.1:p.Gly324GlufsTer13
XM_017022887.2:c.971del	XP_016878376.1:p.Gly324GlufsTer13
XM_017022888.2:c.971del	XP_016878377.1:p.Gly324GlufsTer13
XM_017022889.2:c.971del	XP_016878378.1:p.Gly324GlufsTer13
NM_145239.3:c.971del MANE Select	NP_660282.2:p.Gly324GlufsTer13
NM_001256442.2:c.971del	NP_001243371.1:p.Gly324GlufsTer13
NM_001256443.2:c.*470del	NP_001243372.1:n.*470del