Canonical Allele Identifier: CA395480360

Gene: PRRT2

Linked Data

• gnomAD v4: 16-29813950-C-T
• MyVariant Identifiers: chr16:g.29825271C>T (hg19) ; chr16:g.29813950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813950C>T , CM000678.2:g.29813950C>T	GRCh38
NC_000016.9:g.29825271C>T , CM000678.1:g.29825271C>T	GRCh37
NC_000016.8:g.29732772C>T	NCBI36
NG_032039.1:g.6863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.879+17C>T MANE Select	ENSP00000351608.7:n.879+17C>T
ENST00000567551.2:c.340-383C>T	ENSP00000489813.1:n.340-383C>T
ENST00000636131.1:c.896C>T	ENSP00000490390.1:p.Pro299Leu
ENST00000636619.1:c.724+172C>T	ENSP00000489669.1:n.724+172C>T
ENST00000637064.1:c.879+17C>T	ENSP00000490826.1:n.879+17C>T
ENST00000637290.1:c.*194+17C>T	ENSP00000490278.1:n.*194+17C>T
ENST00000637403.1:c.721+175C>T	ENSP00000489782.1:n.721+175C>T
ENST00000637565.1:c.340-394C>T	ENSP00000490207.1:n.340-394C>T
ENST00000647876.1:c.896C>T	ENSP00000498021.1:p.Pro299Leu
ENST00000300797.7:c.896C>T	ENSP00000300797.6:p.Pro299Leu
ENST00000358758.11:c.879+17C>T	ENSP00000351608.7:n.879+17C>T
ENST00000567659.3:c.879+17C>T	ENSP00000456226.1:n.879+17C>T
ENST00000572820.2:c.879+17C>T	ENSP00000458291.2:n.879+17C>T
ENST00000609618.2:c.879+17C>T	ENSP00000476774.2:n.879+17C>T
NM_001256442.1:c.879+17C>T	NP_001243371.1:n.879+17C>T
NM_001256443.1:c.896C>T	NP_001243372.1:p.Pro299Leu
NM_145239.2:c.879+17C>T	NP_660282.2:n.879+17C>T
XM_011545715.1:c.879+17C>T	XP_011544017.1:n.879+17C>T
XM_011545716.1:c.879+17C>T	XP_011544018.1:n.879+17C>T
XM_011545717.1:c.879+17C>T	XP_011544019.1:n.879+17C>T
XM_011545718.1:c.879+17C>T	XP_011544020.1:n.879+17C>T
XM_011545715.3:c.879+17C>T	XP_011544017.1:n.879+17C>T
XM_017022887.2:c.879+17C>T	XP_016878376.1:n.879+17C>T
XM_017022888.2:c.879+17C>T	XP_016878377.1:n.879+17C>T
XM_017022889.2:c.879+17C>T	XP_016878378.1:n.879+17C>T
NM_145239.3:c.879+17C>T MANE Select	NP_660282.2:n.879+17C>T
NM_001256442.2:c.879+17C>T	NP_001243371.1:n.879+17C>T
NM_001256443.2:c.896C>T	NP_001243372.1:p.Pro299Leu