Canonical Allele Identifier: CA658798584
Gene: PRRT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 510853
ClinVar RCV Id: RCV002464268
dbSNP Id: rs1555502536

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29812981_29812983del , CM000678.2:g.29812981_29812983del GRCh38
NC_000016.9:g.29824302_29824304del , CM000678.1:g.29824302_29824304del GRCh37
NC_000016.8:g.29731803_29731805del NCBI36
NG_032039.1:g.5894_5896del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358758.12:c.-65-9_-65-7del MANE Select ENSP00000351608.7:n.-65-9_-65-7del
ENST00000567551.2:c.-65-9_-65-7del ENSP00000489813.1:n.-65-9_-65-7del
ENST00000636001.1:n.71-9_71-7del
ENST00000636019.1:n.87+658_87+660del
ENST00000636131.1:c.-65-9_-65-7del ENSP00000490390.1:n.-65-9_-65-7del
ENST00000636246.1:c.-65-9_-65-7del ENSP00000489948.1:n.-65-9_-65-7del
ENST00000636619.1:c.-65-9_-65-7del ENSP00000489669.1:n.-65-9_-65-7del
ENST00000637064.1:c.-65-9_-65-7del ENSP00000490826.1:n.-65-9_-65-7del
ENST00000637290.1:c.-65-9_-65-7del ENSP00000490278.1:n.-65-9_-65-7del
ENST00000637403.1:c.-65-9_-65-7del ENSP00000489782.1:n.-65-9_-65-7del
ENST00000637542.1:n.52-9_52-7del
ENST00000637565.1:c.-65-9_-65-7del ENSP00000490207.1:n.-65-9_-65-7del
ENST00000637596.1:c.-65-9_-65-7del ENSP00000489805.1:n.-65-9_-65-7del
ENST00000647876.1:c.-65-9_-65-7del ENSP00000498021.1:n.-65-9_-65-7del
ENST00000300797.7:c.-65-9_-65-7del ENSP00000300797.6:n.-65-9_-65-7del
ENST00000358758.11:c.-65-9_-65-7del ENSP00000351608.7:n.-65-9_-65-7del
ENST00000562148.2:c.-65-9_-65-7del ENSP00000454634.2:n.-65-9_-65-7del
ENST00000567551.1:n.49-9_49-7del
ENST00000567659.3:c.-65-9_-65-7del ENSP00000456226.1:n.-65-9_-65-7del
ENST00000572820.2:c.-65-9_-65-7del ENSP00000458291.2:n.-65-9_-65-7del
ENST00000609618.2:c.-65-9_-65-7del ENSP00000476774.2:n.-65-9_-65-7del
NM_001256442.1:c.-65-9_-65-7del NP_001243371.1:n.-65-9_-65-7del
NM_001256443.1:c.-65-9_-65-7del NP_001243372.1:n.-65-9_-65-7del
NM_145239.2:c.-65-9_-65-7del NP_660282.2:n.-65-9_-65-7del
XM_011545715.1:c.-65-9_-65-7del XP_011544017.1:n.-65-9_-65-7del
XM_011545716.1:c.-65-9_-65-7del XP_011544018.1:n.-65-9_-65-7del
XM_011545715.3:c.-65-9_-65-7del XP_011544017.1:n.-65-9_-65-7del
XM_017022887.2:c.-65-9_-65-7del XP_016878376.1:n.-65-9_-65-7del
XM_017022888.2:c.-65-9_-65-7del XP_016878377.1:n.-65-9_-65-7del
XM_017022889.2:c.-65-9_-65-7del XP_016878378.1:n.-65-9_-65-7del
NM_145239.3:c.-65-9_-65-7del MANE Select NP_660282.2:n.-65-9_-65-7del
NM_001256442.2:c.-65-9_-65-7del NP_001243371.1:n.-65-9_-65-7del
NM_001256443.2:c.-65-9_-65-7del NP_001243372.1:n.-65-9_-65-7del