Canonical Allele Identifier: CA2479793
Gene: PRICKLE2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.64157168G>A
GRCh37 chr3:g.64142844G>A
gnomAD v2:
3:64142844 G / A
gnomAD v3:
3:64157168 G / A
gnomAD v4:
chr3-64157168-G-A
Joint Max Group AF 0.00014376 (AFR)
Genomes Max Group AF 0.00018513 (AFR)
Exomes Max Group AF 0.0000795 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.64157168G>A , CM000665.2:g.64157168G>A GRCh38
NC_000003.11:g.64142844G>A , CM000665.1:g.64142844G>A GRCh37
NC_000003.10:g.64117884G>A NCBI36
NG_031930.1:g.73288C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295902.11:c.762C>T ENSP00000295902.7:p.Cys254=
ENST00000564377.6:c.594C>T ENSP00000455004.2:p.Cys198=
ENST00000638394.2:c.594C>T MANE Select ENSP00000492363.1:p.Cys198=
ENST00000640303.1:n.1233C>T
ENST00000295902.10:c.594C>T ENSP00000295902.6:p.Cys198=
ENST00000564377.5:c.762C>T ENSP00000455004.1:p.Cys254=
NM_198859.3:c.594C>T NP_942559.1:p.Cys198=
XM_011533432.1:c.870C>T XP_011531734.1:p.Cys290=
XM_011533433.1:c.870C>T XP_011531735.1:p.Cys290=
XM_011533434.1:c.762C>T XP_011531736.1:p.Cys254=
XM_011533435.1:c.762C>T XP_011531737.1:p.Cys254=
XM_011533436.1:c.594C>T XP_011531738.1:p.Cys198=
XM_011533437.1:c.594C>T XP_011531739.1:p.Cys198=
XM_011533438.1:c.243C>T XP_011531740.1:p.Cys81=
XM_011533439.1:c.594C>T XP_011531741.1:p.Cys198=
XM_011533440.1:c.870C>T XP_011531742.1:p.Cys290=
XM_011533432.2:c.870C>T XP_011531734.1:p.Cys290=
XM_011533433.2:c.870C>T XP_011531735.1:p.Cys290=
XM_011533434.2:c.762C>T XP_011531736.1:p.Cys254=
XM_011533435.2:c.762C>T XP_011531737.1:p.Cys254=
XM_011533436.3:c.594C>T XP_011531738.1:p.Cys198=
XM_011533437.2:c.594C>T XP_011531739.1:p.Cys198=
XM_011533438.2:c.243C>T XP_011531740.1:p.Cys81=
XM_011533440.2:c.870C>T XP_011531742.1:p.Cys290=
XM_017005798.1:c.594C>T XP_016861287.1:p.Cys198=
XM_017005799.1:c.222C>T XP_016861288.1:p.Cys74=
NM_198859.4:c.594C>T MANE Select NP_942559.1:p.Cys198=
NM_001370528.1:c.594C>T NP_001357457.1:p.Cys198=
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