Canonical Allele Identifier: CA2479820
Community Standard Title: NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val)
Gene: PRICKLE2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.64157338T>C , CM000665.2:g.64157338T>C GRCh38
NC_000003.11:g.64143014T>C , CM000665.1:g.64143014T>C GRCh37
NC_000003.10:g.64118054T>C NCBI36
NG_031930.1:g.73118A>G

Transcript Alleles

HGVS Amino-acid Change
NM_198859.4:c.424A>G MANE Select NP_942559.1:p.Ile142Val
ENST00000638394.2:c.424A>G MANE Select ENSP00000492363.1:p.Ile142Val
NM_001370528.1:c.424A>G NP_001357457.1:p.Ile142Val
NM_198859.3:c.424A>G NP_942559.1:p.Ile142Val
ENST00000295902.10:c.424A>G ENSP00000295902.6:p.Ile142Val
ENST00000295902.11:c.592A>G ENSP00000295902.7:p.Ile198Val
ENST00000498162.1:c.424A>G ENSP00000419951.1:p.Ile142Val
ENST00000564377.5:c.592A>G ENSP00000455004.1:p.Ile198Val
ENST00000564377.6:c.424A>G ENSP00000455004.2:p.Ile142Val
ENST00000640303.1:n.1063A>G
XM_011533432.1:c.700A>G XP_011531734.1:p.Ile234Val
XM_011533432.2:c.700A>G XP_011531734.1:p.Ile234Val
XM_011533433.1:c.700A>G XP_011531735.1:p.Ile234Val
XM_011533433.2:c.700A>G XP_011531735.1:p.Ile234Val
XM_011533434.1:c.592A>G XP_011531736.1:p.Ile198Val
XM_011533434.2:c.592A>G XP_011531736.1:p.Ile198Val
XM_011533435.1:c.592A>G XP_011531737.1:p.Ile198Val
XM_011533435.2:c.592A>G XP_011531737.1:p.Ile198Val
XM_011533436.1:c.424A>G XP_011531738.1:p.Ile142Val
XM_011533436.3:c.424A>G XP_011531738.1:p.Ile142Val
XM_011533437.1:c.424A>G XP_011531739.1:p.Ile142Val
XM_011533437.2:c.424A>G XP_011531739.1:p.Ile142Val
XM_011533438.1:c.73A>G XP_011531740.1:p.Ile25Val
XM_011533438.2:c.73A>G XP_011531740.1:p.Ile25Val
XM_011533439.1:c.424A>G XP_011531741.1:p.Ile142Val
XM_011533440.1:c.700A>G XP_011531742.1:p.Ile234Val
XM_011533440.2:c.700A>G XP_011531742.1:p.Ile234Val
XM_017005798.1:c.424A>G XP_016861287.1:p.Ile142Val
XM_017005799.1:c.52A>G XP_016861288.1:p.Ile18Val