Canonical Allele Identifier: CA395480837

Gene: PRRT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814454T>A , CM000678.2:g.29814454T>A	GRCh38
NC_000016.9:g.29825775T>A , CM000678.1:g.29825775T>A	GRCh37
NC_000016.8:g.29733276T>A	NCBI36
NG_032039.1:g.7367T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145239.3:c.1001T>A MANE Select	NP_660282.2:p.Ile334Asn
ENST00000358758.12:c.1001T>A MANE Select	ENSP00000351608.7:p.Ile334Asn
NM_001256442.1:c.1001T>A	NP_001243371.1:p.Ile334Asn
NM_001256442.2:c.1001T>A	NP_001243371.1:p.Ile334Asn
NM_001256443.1:c.*500T>A	NP_001243372.1:n.*500T>A
NM_001256443.2:c.*500T>A	NP_001243372.1:n.*500T>A
NM_145239.2:c.1001T>A	NP_660282.2:p.Ile334Asn
ENST00000300797.7:c.*500T>A	ENSP00000300797.6:n.*500T>A
ENST00000358758.11:c.1001T>A	ENSP00000351608.7:p.Ile334Asn
ENST00000567659.3:c.1001T>A	ENSP00000456226.1:p.Ile334Asn
ENST00000572820.2:c.1001T>A	ENSP00000458291.2:p.Ile334Asn
ENST00000609618.2:c.990T>A	ENSP00000476774.2:p.His330Gln
ENST00000636131.1:c.*177T>A	ENSP00000490390.1:n.*177T>A
ENST00000636619.1:c.846T>A	ENSP00000489669.1:p.His282Gln
ENST00000636902.1:c.20T>A	ENSP00000489935.1:p.Ile7Asn
ENST00000637064.1:c.1001T>A	ENSP00000490826.1:p.Ile334Asn
ENST00000637290.1:c.*316T>A	ENSP00000490278.1:n.*316T>A
ENST00000637403.1:c.843T>A	ENSP00000489782.1:p.His281Gln
ENST00000637565.1:c.450T>A	ENSP00000490207.1:p.His150Gln
ENST00000647876.1:c.*500T>A	ENSP00000498021.1:n.*500T>A
XM_011545715.1:c.1001T>A	XP_011544017.1:p.Ile334Asn
XM_011545715.3:c.1001T>A	XP_011544017.1:p.Ile334Asn
XM_011545716.1:c.1001T>A	XP_011544018.1:p.Ile334Asn
XM_011545717.1:c.1001T>A	XP_011544019.1:p.Ile334Asn
XM_011545718.1:c.1001T>A	XP_011544020.1:p.Ile334Asn
XM_017022887.2:c.1001T>A	XP_016878376.1:p.Ile334Asn
XM_017022888.2:c.1001T>A	XP_016878377.1:p.Ile334Asn
XM_017022889.2:c.1001T>A	XP_016878378.1:p.Ile334Asn