Canonical Allele Identifier: CA7994625

Gene: PRRT2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814366G>A , CM000678.2:g.29814366G>A	GRCh38
NC_000016.9:g.29825687G>A , CM000678.1:g.29825687G>A	GRCh37
NC_000016.8:g.29733188G>A	NCBI36
NG_032039.1:g.7279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.913G>A MANE Select	ENSP00000351608.7:p.Gly305Arg
ENST00000567551.2:c.373G>A	ENSP00000489813.1:p.Gly125Arg
ENST00000636131.1:c.*89G>A	ENSP00000490390.1:n.*89G>A
ENST00000636619.1:c.758G>A	ENSP00000489669.1:p.Arg253Gln
ENST00000637064.1:c.913G>A	ENSP00000490826.1:p.Gly305Arg
ENST00000637290.1:c.*228G>A	ENSP00000490278.1:n.*228G>A
ENST00000637403.1:c.755G>A	ENSP00000489782.1:p.Arg252Gln
ENST00000637565.1:c.362G>A	ENSP00000490207.1:p.Arg121Gln
ENST00000647876.1:c.*412G>A	ENSP00000498021.1:n.*412G>A
ENST00000300797.7:c.*412G>A	ENSP00000300797.6:n.*412G>A
ENST00000358758.11:c.913G>A	ENSP00000351608.7:p.Gly305Arg
ENST00000567659.3:c.913G>A	ENSP00000456226.1:p.Gly305Arg
ENST00000572820.2:c.913G>A	ENSP00000458291.2:p.Gly305Arg
ENST00000609618.2:c.902G>A	ENSP00000476774.2:p.Arg301Gln
NM_001256442.1:c.913G>A	NP_001243371.1:p.Gly305Arg
NM_001256443.1:c.*412G>A	NP_001243372.1:n.*412G>A
NM_145239.2:c.913G>A	NP_660282.2:p.Gly305Arg
XM_011545715.1:c.913G>A	XP_011544017.1:p.Gly305Arg
XM_011545716.1:c.913G>A	XP_011544018.1:p.Gly305Arg
XM_011545717.1:c.913G>A	XP_011544019.1:p.Gly305Arg
XM_011545718.1:c.913G>A	XP_011544020.1:p.Gly305Arg
XM_011545715.3:c.913G>A	XP_011544017.1:p.Gly305Arg
XM_017022887.2:c.913G>A	XP_016878376.1:p.Gly305Arg
XM_017022888.2:c.913G>A	XP_016878377.1:p.Gly305Arg
XM_017022889.2:c.913G>A	XP_016878378.1:p.Gly305Arg
NM_145239.3:c.913G>A MANE Select	NP_660282.2:p.Gly305Arg
NM_001256442.2:c.913G>A	NP_001243371.1:p.Gly305Arg
NM_001256443.2:c.*412G>A	NP_001243372.1:n.*412G>A