Canonical Allele Identifier: CA245505

Gene: PRICKLE2

Linked Data

• ClinVar Variation Id: 197400
• ClinVar RCV Id: RCV000178417 ; RCV002054115
• dbSNP Id: rs751122249
• ExAC: 3:64145682 G / A
• gnomAD v2: 3-64145682-G-A
• gnomAD v3: 3-64160006-G-A
• gnomAD v4: 3-64160006-G-A
• MyVariant Identifiers: chr3:g.64145682G>A (hg19) ; chr3:g.64160006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.64160006G>A , CM000665.2:g.64160006G>A	GRCh38
NC_000003.11:g.64145682G>A , CM000665.1:g.64145682G>A	GRCh37
NC_000003.10:g.64120722G>A	NCBI36
NG_031930.1:g.70450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295902.11:c.498C>T	ENSP00000295902.7:p.Arg166=
ENST00000564377.6:c.330C>T	ENSP00000455004.2:p.Arg110=
ENST00000638394.2:c.330C>T MANE Select	ENSP00000492363.1:p.Arg110=
ENST00000639113.1:n.495C>T
ENST00000640303.1:n.969C>T
ENST00000295902.10:c.330C>T	ENSP00000295902.6:p.Arg110=
ENST00000498162.1:c.330C>T	ENSP00000419951.1:p.Arg110=
ENST00000564377.5:c.498C>T	ENSP00000455004.1:p.Arg166=
NM_198859.3:c.330C>T	NP_942559.1:p.Arg110=
XM_011533432.1:c.606C>T	XP_011531734.1:p.Arg202=
XM_011533433.1:c.606C>T	XP_011531735.1:p.Arg202=
XM_011533434.1:c.498C>T	XP_011531736.1:p.Arg166=
XM_011533435.1:c.498C>T	XP_011531737.1:p.Arg166=
XM_011533436.1:c.330C>T	XP_011531738.1:p.Arg110=
XM_011533437.1:c.330C>T	XP_011531739.1:p.Arg110=
XM_011533439.1:c.330C>T	XP_011531741.1:p.Arg110=
XM_011533440.1:c.606C>T	XP_011531742.1:p.Arg202=
XM_011533432.2:c.606C>T	XP_011531734.1:p.Arg202=
XM_011533433.2:c.606C>T	XP_011531735.1:p.Arg202=
XM_011533434.2:c.498C>T	XP_011531736.1:p.Arg166=
XM_011533435.2:c.498C>T	XP_011531737.1:p.Arg166=
XM_011533436.3:c.330C>T	XP_011531738.1:p.Arg110=
XM_011533437.2:c.330C>T	XP_011531739.1:p.Arg110=
XM_011533440.2:c.606C>T	XP_011531742.1:p.Arg202=
XM_017005798.1:c.330C>T	XP_016861287.1:p.Arg110=
XM_017005799.1:c.-43C>T	XP_016861288.1:n.-43C>T
NM_198859.4:c.330C>T MANE Select	NP_942559.1:p.Arg110=
NM_001370528.1:c.330C>T	NP_001357457.1:p.Arg110=