Canonical Allele Identifier: CA2580091442

Gene: PRRT2

Linked Data

• ClinVar Variation Id: 2012891
• ClinVar RCV Id: RCV002843452
• gnomAD v4: 16-29813029-GGCTCTCTCCCCTCTCCCATCTCAAGATGGCAGCCAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813035_29813072del , CM000678.2:g.29813035_29813072del	GRCh38
NC_000016.9:g.29824356_29824393del , CM000678.1:g.29824356_29824393del	GRCh37
NC_000016.8:g.29731857_29731894del	NCBI36
NG_032039.1:g.5948_5985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.-20_18del
ENST00000567551.2:c.-20_18del
ENST00000636019.1:n.88-651_88-614del
ENST00000636131.1:c.-20_18del
ENST00000636246.1:c.-20_18del
ENST00000636619.1:c.-20_18del
ENST00000637064.1:c.-20_18del
ENST00000637290.1:c.-20_18del
ENST00000637403.1:c.-20_18del
ENST00000637565.1:c.-20_18del
ENST00000637596.1:c.-20_18del
ENST00000647876.1:c.-20_18del
ENST00000300797.7:c.-20_18del
ENST00000358758.11:c.-20_18del
ENST00000562148.2:c.-20_18del
ENST00000567551.1:n.94_131del
ENST00000567659.3:c.-20_18del
ENST00000572820.2:c.-20_18del
ENST00000609618.2:c.-20_18del
NM_001256442.1:c.-20_18del
NM_001256443.1:c.-20_18del
NM_145239.2:c.-20_18del
XM_011545715.1:c.-20_18del
XM_011545716.1:c.-20_18del
XM_011545717.1:c.-20_18del
XM_011545718.1:c.-20_18del
XM_011545715.3:c.-20_18del
XM_017022887.2:c.-20_18del
XM_017022888.2:c.-20_18del
XM_017022889.2:c.-20_18del
NM_145239.3:c.-20_18del
NM_001256442.2:c.-20_18del
NM_001256443.2:c.-20_18del