Canonical Allele Identifier: CA622164917

Gene: PRRT2

Linked Data

• ClinVar Variation Id: 871891
• ClinVar RCV Id: RCV001092090 ; RCV001208461 ; RCV001644913 ; RCV002249678 ; RCV003983836
• dbSNP Id: rs796052941
• gnomAD v2: 16-29825739-T-TG
• gnomAD v4: 16-29814418-T-TG
• MyVariant Identifiers: chr16:g.29825739_29825740insG (hg19) ; chr16:g.29814418_29814419insG (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.971dup MANE Select	ENSP00000351608.7:p.Val325SerfsTer16
ENST00000567551.2:c.431dup	ENSP00000489813.1:p.Val145SerfsTer?
ENST00000636131.1:c.*147dup	ENSP00000490390.1:n.*147dup
ENST00000636619.1:c.816dup	ENSP00000489669.1:p.Ser273GlufsTer13
ENST00000637064.1:c.971dup	ENSP00000490826.1:p.Val325SerfsTer16
ENST00000637290.1:c.*286dup	ENSP00000490278.1:n.*286dup
ENST00000637403.1:c.813dup	ENSP00000489782.1:p.Ser272GlufsTer13
ENST00000637565.1:c.420dup	ENSP00000490207.1:p.Ser141GlufsTer13
ENST00000647876.1:c.*470dup	ENSP00000498021.1:n.*470dup
ENST00000300797.7:c.*470dup	ENSP00000300797.6:n.*470dup
ENST00000358758.11:c.971dup	ENSP00000351608.7:p.Val325SerfsTer16
ENST00000567659.3:c.971dup	ENSP00000456226.1:p.Val325SerfsTer15
ENST00000572820.2:c.971dup	ENSP00000458291.2:p.Val325SerfsTer16
ENST00000609618.2:c.960dup	ENSP00000476774.2:p.Ser321GlufsTer13
NM_001256442.1:c.971dup	NP_001243371.1:p.Val325SerfsTer15
NM_001256443.1:c.*470dup	NP_001243372.1:n.*470dup
NM_145239.2:c.971dup	NP_660282.2:p.Val325SerfsTer16
XM_011545715.1:c.971dup	XP_011544017.1:p.Val325SerfsTer15
XM_011545716.1:c.971dup	XP_011544018.1:p.Val325SerfsTer15
XM_011545717.1:c.971dup	XP_011544019.1:p.Val325SerfsTer?
XM_011545718.1:c.971dup	XP_011544020.1:p.Val325SerfsTer23
XM_011545715.3:c.971dup	XP_011544017.1:p.Val325SerfsTer15
XM_017022887.2:c.971dup	XP_016878376.1:p.Val325SerfsTer?
XM_017022888.2:c.971dup	XP_016878377.1:p.Val325SerfsTer16
XM_017022889.2:c.971dup	XP_016878378.1:p.Val325SerfsTer23
NM_145239.3:c.971dup MANE Select	NP_660282.2:p.Val325SerfsTer16
NM_001256442.2:c.971dup	NP_001243371.1:p.Val325SerfsTer15
NM_001256443.2:c.*470dup	NP_001243372.1:n.*470dup