Canonical Allele Identifier: CA976228725

Gene: PRRT2

Linked Data

• dbSNP Id: rs1900122409
• gnomAD v3: 16-29814021-T-C
• gnomAD v4: 16-29814021-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814021T>C , CM000678.2:g.29814021T>C	GRCh38
NC_000016.9:g.29825342T>C , CM000678.1:g.29825342T>C	GRCh37
NC_000016.8:g.29732843T>C	NCBI36
NG_032039.1:g.6934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.879+88T>C MANE Select	ENSP00000351608.7:n.879+88T>C
ENST00000567551.2:c.340-312T>C	ENSP00000489813.1:n.340-312T>C
ENST00000636131.1:c.*55+12T>C	ENSP00000490390.1:n.*55+12T>C
ENST00000636619.1:c.724+243T>C	ENSP00000489669.1:n.724+243T>C
ENST00000637064.1:c.879+88T>C	ENSP00000490826.1:n.879+88T>C
ENST00000637290.1:c.*194+88T>C	ENSP00000490278.1:n.*194+88T>C
ENST00000637403.1:c.721+246T>C	ENSP00000489782.1:n.721+246T>C
ENST00000637565.1:c.340-323T>C	ENSP00000490207.1:n.340-323T>C
ENST00000647876.1:c.*67T>C	ENSP00000498021.1:n.*67T>C
ENST00000300797.7:c.*67T>C	ENSP00000300797.6:n.*67T>C
ENST00000358758.11:c.879+88T>C	ENSP00000351608.7:n.879+88T>C
ENST00000567659.3:c.879+88T>C	ENSP00000456226.1:n.879+88T>C
ENST00000572820.2:c.879+88T>C	ENSP00000458291.2:n.879+88T>C
ENST00000609618.2:c.879+88T>C	ENSP00000476774.2:n.879+88T>C
NM_001256442.1:c.879+88T>C	NP_001243371.1:n.879+88T>C
NM_001256443.1:c.*67T>C	NP_001243372.1:n.*67T>C
NM_145239.2:c.879+88T>C	NP_660282.2:n.879+88T>C
XM_011545715.1:c.879+88T>C	XP_011544017.1:n.879+88T>C
XM_011545716.1:c.879+88T>C	XP_011544018.1:n.879+88T>C
XM_011545717.1:c.879+88T>C	XP_011544019.1:n.879+88T>C
XM_011545718.1:c.879+88T>C	XP_011544020.1:n.879+88T>C
XM_011545715.3:c.879+88T>C	XP_011544017.1:n.879+88T>C
XM_017022887.2:c.879+88T>C	XP_016878376.1:n.879+88T>C
XM_017022888.2:c.879+88T>C	XP_016878377.1:n.879+88T>C
XM_017022889.2:c.879+88T>C	XP_016878378.1:n.879+88T>C
NM_145239.3:c.879+88T>C MANE Select	NP_660282.2:n.879+88T>C
NM_001256442.2:c.879+88T>C	NP_001243371.1:n.879+88T>C
NM_001256443.2:c.*67T>C	NP_001243372.1:n.*67T>C