Canonical Allele Identifier: CA9143074

Gene: PCP2

Linked Data

• ClinVar Variation Id: 403501
• ClinVar RCV Id: RCV000455543
• dbSNP Id: rs1862514
• ExAC: 19:7698320 C / T
• gnomAD v2: 19-7698320-C-T
• gnomAD v3: 19-7633434-C-T
• gnomAD v4: 19-7633434-C-T
• MyVariant Identifiers: chr19:g.7698320C>T (hg19) ; chr19:g.7698320_7698321delinsTG (hg19) ; chr19:g.7633434C>T (hg38) ; chr19:g.7633434_7633435delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7633434C>T , CM000681.2:g.7633434C>T	GRCh38
NC_000019.9:g.7698320C>T , CM000681.1:g.7698320C>T	GRCh37
NC_000019.8:g.7604320C>T	NCBI36
NG_016709.1:g.1330C>T , LRG_165:g.1330C>T
NG_034117.1:g.8650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595866.2:c.138+2588C>T	ENSP00000469553.2:n.138+2588C>T
ENST00000698367.1:n.85+2588C>T
ENST00000698368.1:c.114+2775C>T	ENSP00000513686.1:n.114+2775C>T
ENST00000311069.6:c.24G>A MANE Select	ENSP00000310585.4:p.Thr8=
ENST00000311069.5:c.24G>A	ENSP00000310585.4:p.Thr8=
ENST00000595866.1:c.136+2588C>T
ENST00000598664.5:c.51+2588C>T	ENSP00000472796.1:n.51+2588C>T
ENST00000599243.5:c.*183+1385C>T	ENSP00000470078.1:n.*183+1385C>T
NM_174895.2:c.24G>A	NP_777555.1:p.Thr8=
XM_006722639.2:c.-60-604G>A	XP_006722702.1:n.-60-604G>A
XM_011527676.1:c.24G>A	XP_011525978.1:p.Thr8=
XM_006722639.3:c.-60-604G>A	XP_006722702.1:n.-60-604G>A
XM_017026249.2:c.187G>A	XP_016881738.1:p.Gly63Arg
XM_017026250.2:c.187G>A	XP_016881739.1:p.Gly63Arg
XM_017026251.2:c.24G>A	XP_016881740.1:p.Thr8=
XM_017026252.2:c.-60-604G>A	XP_016881741.1:n.-60-604G>A
XM_024451346.1:c.187G>A	XP_024307114.1:p.Gly63Arg
NM_174895.3:c.24G>A MANE Select	NP_777555.1:p.Thr8=