Canonical Allele Identifier: CA353430114
Gene: PRICKLE2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.64147176C>A , CM000665.2:g.64147176C>A GRCh38
NC_000003.11:g.64132852C>A , CM000665.1:g.64132852C>A GRCh37
NC_000003.10:g.64107892C>A NCBI36
NG_031930.1:g.83280G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295902.11:c.1482G>T ENSP00000295902.7:p.Gln494His
ENST00000564377.6:c.1314G>T ENSP00000455004.2:p.Gln438His
ENST00000638394.2:c.1314G>T MANE Select ENSP00000492363.1:p.Gln438His
ENST00000640095.1:n.2382G>T
ENST00000640303.1:n.1953G>T
ENST00000295902.10:c.1314G>T ENSP00000295902.6:p.Gln438His
ENST00000564377.5:c.1482G>T ENSP00000455004.1:p.Gln494His
NM_198859.3:c.1314G>T NP_942559.1:p.Gln438His
XM_011533432.1:c.1590G>T XP_011531734.1:p.Gln530His
XM_011533433.1:c.1590G>T XP_011531735.1:p.Gln530His
XM_011533434.1:c.1482G>T XP_011531736.1:p.Gln494His
XM_011533435.1:c.1482G>T XP_011531737.1:p.Gln494His
XM_011533436.1:c.1314G>T XP_011531738.1:p.Gln438His
XM_011533437.1:c.1314G>T XP_011531739.1:p.Gln438His
XM_011533438.1:c.963G>T XP_011531740.1:p.Gln321His
XM_011533439.1:c.1314G>T XP_011531741.1:p.Gln438His
XM_011533440.1:c.1590G>T XP_011531742.1:p.Gln530His
XM_011533432.2:c.1590G>T XP_011531734.1:p.Gln530His
XM_011533433.2:c.1590G>T XP_011531735.1:p.Gln530His
XM_011533434.2:c.1482G>T XP_011531736.1:p.Gln494His
XM_011533435.2:c.1482G>T XP_011531737.1:p.Gln494His
XM_011533436.3:c.1314G>T XP_011531738.1:p.Gln438His
XM_011533437.2:c.1314G>T XP_011531739.1:p.Gln438His
XM_011533438.2:c.963G>T XP_011531740.1:p.Gln321His
XM_011533440.2:c.1590G>T XP_011531742.1:p.Gln530His
XM_017005798.1:c.1314G>T XP_016861287.1:p.Gln438His
XM_017005799.1:c.942G>T XP_016861288.1:p.Gln314His
NM_198859.4:c.1314G>T MANE Select NP_942559.1:p.Gln438His
NM_001370528.1:c.1314G>T NP_001357457.1:p.Gln438His