Canonical Allele Identifier: CA16620187

Gene: PRRT2

Linked Data

• ClinVar Variation Id: 422999
• ClinVar RCV Id: RCV000478231
• dbSNP Id: rs1064796153
• gnomAD v3: 16-29812954-C-CCCTCCTCACCCCAAGCCTATCT
• gnomAD v4: 16-29812954-C-CCCTCCTCACCCCAAGCCTATCT
• MyVariant Identifiers: chr16:g.29824283_29824304dup22 (hg19) ; chr16:g.29812962_29812983dup22 (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29812962_29812983dup , CM000678.2:g.29812962_29812983dup	GRCh38
NC_000016.9:g.29824283_29824304dup , CM000678.1:g.29824283_29824304dup	GRCh37
NC_000016.8:g.29731784_29731805dup	NCBI36
NG_032039.1:g.5875_5896dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.-65-28_-65-7dup MANE Select	ENSP00000351608.7:n.-65-28_-65-7dup
ENST00000567551.2:c.-65-28_-65-7dup	ENSP00000489813.1:n.-65-28_-65-7dup
ENST00000636001.1:n.71-28_71-7dup
ENST00000636019.1:n.87+639_87+660dup
ENST00000636131.1:c.-65-28_-65-7dup	ENSP00000490390.1:n.-65-28_-65-7dup
ENST00000636246.1:c.-65-28_-65-7dup	ENSP00000489948.1:n.-65-28_-65-7dup
ENST00000636619.1:c.-65-28_-65-7dup	ENSP00000489669.1:n.-65-28_-65-7dup
ENST00000637064.1:c.-65-28_-65-7dup	ENSP00000490826.1:n.-65-28_-65-7dup
ENST00000637290.1:c.-65-28_-65-7dup	ENSP00000490278.1:n.-65-28_-65-7dup
ENST00000637403.1:c.-65-28_-65-7dup	ENSP00000489782.1:n.-65-28_-65-7dup
ENST00000637542.1:n.52-28_52-7dup
ENST00000637565.1:c.-65-28_-65-7dup	ENSP00000490207.1:n.-65-28_-65-7dup
ENST00000637596.1:c.-65-28_-65-7dup	ENSP00000489805.1:n.-65-28_-65-7dup
ENST00000647876.1:c.-65-28_-65-7dup	ENSP00000498021.1:n.-65-28_-65-7dup
ENST00000300797.7:c.-65-28_-65-7dup	ENSP00000300797.6:n.-65-28_-65-7dup
ENST00000358758.11:c.-65-28_-65-7dup	ENSP00000351608.7:n.-65-28_-65-7dup
ENST00000562148.2:c.-65-28_-65-7dup	ENSP00000454634.2:n.-65-28_-65-7dup
ENST00000567551.1:n.49-28_49-7dup
ENST00000567659.3:c.-65-28_-65-7dup	ENSP00000456226.1:n.-65-28_-65-7dup
ENST00000572820.2:c.-65-28_-65-7dup	ENSP00000458291.2:n.-65-28_-65-7dup
ENST00000609618.2:c.-65-28_-65-7dup	ENSP00000476774.2:n.-65-28_-65-7dup
NM_001256442.1:c.-65-28_-65-7dup	NP_001243371.1:n.-65-28_-65-7dup
NM_001256443.1:c.-65-28_-65-7dup	NP_001243372.1:n.-65-28_-65-7dup
NM_145239.2:c.-65-28_-65-7dup	NP_660282.2:n.-65-28_-65-7dup
XM_011545715.1:c.-65-28_-65-7dup	XP_011544017.1:n.-65-28_-65-7dup
XM_011545716.1:c.-65-28_-65-7dup	XP_011544018.1:n.-65-28_-65-7dup
XM_011545715.3:c.-65-28_-65-7dup	XP_011544017.1:n.-65-28_-65-7dup
XM_017022887.2:c.-65-28_-65-7dup	XP_016878376.1:n.-65-28_-65-7dup
XM_017022888.2:c.-65-28_-65-7dup	XP_016878377.1:n.-65-28_-65-7dup
XM_017022889.2:c.-65-28_-65-7dup	XP_016878378.1:n.-65-28_-65-7dup
NM_145239.3:c.-65-28_-65-7dup MANE Select	NP_660282.2:n.-65-28_-65-7dup
NM_001256442.2:c.-65-28_-65-7dup	NP_001243371.1:n.-65-28_-65-7dup
NM_001256443.2:c.-65-28_-65-7dup	NP_001243372.1:n.-65-28_-65-7dup