Canonical Allele Identifier: CA719790623

Gene: PRRT2

Linked Data

• dbSNP Id: rs1202082132
• gnomAD v3: 16-29814146-AAC-A
• gnomAD v4: 16-29814146-AAC-A
• MyVariant Identifiers: chr16:g.29825468_29825469del (hg19) ; chr16:g.29814147_29814148del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814149_29814150del , CM000678.2:g.29814149_29814150del	GRCh38
NC_000016.9:g.29825470_29825471del , CM000678.1:g.29825470_29825471del	GRCh37
NC_000016.8:g.29732971_29732972del	NCBI36
NG_032039.1:g.7062_7063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.880-184_880-183del MANE Select	ENSP00000351608.7:n.880-184_880-183del
ENST00000567551.2:c.340-184_340-183del	ENSP00000489813.1:n.340-184_340-183del
ENST00000636131.1:c.*55+140_*55+141del	ENSP00000490390.1:n.*55+140_*55+141del
ENST00000636619.1:c.725-184_725-183del	ENSP00000489669.1:n.725-184_725-183del
ENST00000637064.1:c.880-184_880-183del	ENSP00000490826.1:n.880-184_880-183del
ENST00000637290.1:c.*195-184_*195-183del	ENSP00000490278.1:n.*195-184_*195-183del
ENST00000637403.1:c.722-184_722-183del	ENSP00000489782.1:n.722-184_722-183del
ENST00000637565.1:c.340-195_340-194del	ENSP00000490207.1:n.340-195_340-194del
ENST00000647876.1:c.*195_*196del	ENSP00000498021.1:n.*195_*196del
ENST00000300797.7:c.*195_*196del	ENSP00000300797.6:n.*195_*196del
ENST00000358758.11:c.880-184_880-183del	ENSP00000351608.7:n.880-184_880-183del
ENST00000567659.3:c.880-184_880-183del	ENSP00000456226.1:n.880-184_880-183del
ENST00000572820.2:c.880-184_880-183del	ENSP00000458291.2:n.880-184_880-183del
ENST00000609618.2:c.880-195_880-194del	ENSP00000476774.2:n.880-195_880-194del
NM_001256442.1:c.880-184_880-183del	NP_001243371.1:n.880-184_880-183del
NM_001256443.1:c.*195_*196del	NP_001243372.1:n.*195_*196del
NM_145239.2:c.880-184_880-183del	NP_660282.2:n.880-184_880-183del
XM_011545715.1:c.880-184_880-183del	XP_011544017.1:n.880-184_880-183del
XM_011545716.1:c.880-184_880-183del	XP_011544018.1:n.880-184_880-183del
XM_011545717.1:c.880-184_880-183del	XP_011544019.1:n.880-184_880-183del
XM_011545718.1:c.880-184_880-183del	XP_011544020.1:n.880-184_880-183del
XM_011545715.3:c.880-184_880-183del	XP_011544017.1:n.880-184_880-183del
XM_017022887.2:c.880-184_880-183del	XP_016878376.1:n.880-184_880-183del
XM_017022888.2:c.880-184_880-183del	XP_016878377.1:n.880-184_880-183del
XM_017022889.2:c.880-184_880-183del	XP_016878378.1:n.880-184_880-183del
NM_145239.3:c.880-184_880-183del MANE Select	NP_660282.2:n.880-184_880-183del
NM_001256442.2:c.880-184_880-183del	NP_001243371.1:n.880-184_880-183del
NM_001256443.2:c.*195_*196del	NP_001243372.1:n.*195_*196del