Canonical Allele Identifier: CA7994633

Gene: PRRT2

Linked Data

• ClinVar Variation Id: 2765295
• ClinVar RCV Id: RCV003594461
• dbSNP Id: rs775617472
• ExAC: 16:29825747 GTCC / G
• gnomAD v2: 16-29825747-GTCC-G
• gnomAD v4: 16-29814426-GTCC-G
• MyVariant Identifiers: chr16:g.29825748_29825750del (hg19) ; chr16:g.29814427_29814429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814429_29814431del , CM000678.2:g.29814429_29814431del	GRCh38
NC_000016.9:g.29825750_29825752del , CM000678.1:g.29825750_29825752del	GRCh37
NC_000016.8:g.29733251_29733253del	NCBI36
NG_032039.1:g.7342_7344del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.976_978del MANE Select	ENSP00000351608.7:p.Leu326del
ENST00000636131.1:c.*152_*154del	ENSP00000490390.1:n.*152_*154del
ENST00000636619.1:c.821_823del	ENSP00000489669.1:p.Pro274del
ENST00000637064.1:c.976_978del	ENSP00000490826.1:p.Leu326del
ENST00000637290.1:c.*291_*293del	ENSP00000490278.1:n.*291_*293del
ENST00000637403.1:c.818_820del	ENSP00000489782.1:p.Pro273del
ENST00000637565.1:c.425_427del	ENSP00000490207.1:p.Pro142del
ENST00000647876.1:c.*475_*477del	ENSP00000498021.1:n.*475_*477del
ENST00000300797.7:c.*475_*477del	ENSP00000300797.6:n.*475_*477del
ENST00000358758.11:c.976_978del	ENSP00000351608.7:p.Leu326del
ENST00000567659.3:c.976_978del	ENSP00000456226.1:p.Leu326del
ENST00000572820.2:c.976_978del	ENSP00000458291.2:p.Leu326del
ENST00000609618.2:c.965_967del	ENSP00000476774.2:p.Pro322del
NM_001256442.1:c.976_978del	NP_001243371.1:p.Leu326del
NM_001256443.1:c.*475_*477del	NP_001243372.1:n.*475_*477del
NM_145239.2:c.976_978del	NP_660282.2:p.Leu326del
XM_011545715.1:c.976_978del	XP_011544017.1:p.Leu326del
XM_011545716.1:c.976_978del	XP_011544018.1:p.Leu326del
XM_011545717.1:c.976_978del	XP_011544019.1:p.Leu326del
XM_011545718.1:c.976_978del	XP_011544020.1:p.Leu326del
XM_011545715.3:c.976_978del	XP_011544017.1:p.Leu326del
XM_017022887.2:c.976_978del	XP_016878376.1:p.Leu326del
XM_017022888.2:c.976_978del	XP_016878377.1:p.Leu326del
XM_017022889.2:c.976_978del	XP_016878378.1:p.Leu326del
NM_145239.3:c.976_978del MANE Select	NP_660282.2:p.Leu326del
NM_001256442.2:c.976_978del	NP_001243371.1:p.Leu326del
NM_001256443.2:c.*475_*477del	NP_001243372.1:n.*475_*477del