Canonical Allele Identifier: CA154775

Gene: PRICKLE2

Linked Data

• ClinVar Variation Id: 130034
• ClinVar RCV Id: RCV000118060 ; RCV000338421 ; RCV000712853 ; RCV001517987
• dbSNP Id: rs17720698
• ExAC: 3:64142859 C / T
• gnomAD v2: 3-64142859-C-T
• gnomAD v3: 3-64157183-C-T
• gnomAD v4: 3-64157183-C-T
• MyVariant Identifiers: chr3:g.64142859C>T (hg19) ; chr3:g.64157183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.64157183C>T , CM000665.2:g.64157183C>T	GRCh38
NC_000003.11:g.64142859C>T , CM000665.1:g.64142859C>T	GRCh37
NC_000003.10:g.64117899C>T	NCBI36
NG_031930.1:g.73273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295902.11:c.747G>A	ENSP00000295902.7:p.Pro249=
ENST00000564377.6:c.579G>A	ENSP00000455004.2:p.Pro193=
ENST00000638394.2:c.579G>A MANE Select	ENSP00000492363.1:p.Pro193=
ENST00000640303.1:n.1218G>A
ENST00000295902.10:c.579G>A	ENSP00000295902.6:p.Pro193=
ENST00000564377.5:c.747G>A	ENSP00000455004.1:p.Pro249=
NM_198859.3:c.579G>A	NP_942559.1:p.Pro193=
XM_011533432.1:c.855G>A	XP_011531734.1:p.Pro285=
XM_011533433.1:c.855G>A	XP_011531735.1:p.Pro285=
XM_011533434.1:c.747G>A	XP_011531736.1:p.Pro249=
XM_011533435.1:c.747G>A	XP_011531737.1:p.Pro249=
XM_011533436.1:c.579G>A	XP_011531738.1:p.Pro193=
XM_011533437.1:c.579G>A	XP_011531739.1:p.Pro193=
XM_011533438.1:c.228G>A	XP_011531740.1:p.Pro76=
XM_011533439.1:c.579G>A	XP_011531741.1:p.Pro193=
XM_011533440.1:c.855G>A	XP_011531742.1:p.Pro285=
XM_011533432.2:c.855G>A	XP_011531734.1:p.Pro285=
XM_011533433.2:c.855G>A	XP_011531735.1:p.Pro285=
XM_011533434.2:c.747G>A	XP_011531736.1:p.Pro249=
XM_011533435.2:c.747G>A	XP_011531737.1:p.Pro249=
XM_011533436.3:c.579G>A	XP_011531738.1:p.Pro193=
XM_011533437.2:c.579G>A	XP_011531739.1:p.Pro193=
XM_011533438.2:c.228G>A	XP_011531740.1:p.Pro76=
XM_011533440.2:c.855G>A	XP_011531742.1:p.Pro285=
XM_017005798.1:c.579G>A	XP_016861287.1:p.Pro193=
XM_017005799.1:c.207G>A	XP_016861288.1:p.Pro69=
NM_198859.4:c.579G>A MANE Select	NP_942559.1:p.Pro193=
NM_001370528.1:c.579G>A	NP_001357457.1:p.Pro193=