Canonical Allele Identifier: CA354158
Gene: PRICKLE2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.64157305C>T , CM000665.2:g.64157305C>T GRCh38
NC_000003.11:g.64142981C>T , CM000665.1:g.64142981C>T GRCh37
NC_000003.10:g.64118021C>T NCBI36
NG_031930.1:g.73151G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000295902.11:c.625G>A ENSP00000295902.7:p.Val209Ile
ENST00000564377.6:c.457G>A ENSP00000455004.2:p.Val153Ile
ENST00000638394.2:c.457G>A MANE Select ENSP00000492363.1:p.Val153Ile
ENST00000640303.1:n.1096G>A
ENST00000295902.10:c.457G>A ENSP00000295902.6:p.Val153Ile
ENST00000564377.5:c.625G>A ENSP00000455004.1:p.Val209Ile
NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile
XM_011533432.1:c.733G>A XP_011531734.1:p.Val245Ile
XM_011533433.1:c.733G>A XP_011531735.1:p.Val245Ile
XM_011533434.1:c.625G>A XP_011531736.1:p.Val209Ile
XM_011533435.1:c.625G>A XP_011531737.1:p.Val209Ile
XM_011533436.1:c.457G>A XP_011531738.1:p.Val153Ile
XM_011533437.1:c.457G>A XP_011531739.1:p.Val153Ile
XM_011533438.1:c.106G>A XP_011531740.1:p.Val36Ile
XM_011533439.1:c.457G>A XP_011531741.1:p.Val153Ile
XM_011533440.1:c.733G>A XP_011531742.1:p.Val245Ile
XM_011533432.2:c.733G>A XP_011531734.1:p.Val245Ile
XM_011533433.2:c.733G>A XP_011531735.1:p.Val245Ile
XM_011533434.2:c.625G>A XP_011531736.1:p.Val209Ile
XM_011533435.2:c.625G>A XP_011531737.1:p.Val209Ile
XM_011533436.3:c.457G>A XP_011531738.1:p.Val153Ile
XM_011533437.2:c.457G>A XP_011531739.1:p.Val153Ile
XM_011533438.2:c.106G>A XP_011531740.1:p.Val36Ile
XM_011533440.2:c.733G>A XP_011531742.1:p.Val245Ile
XM_017005798.1:c.457G>A XP_016861287.1:p.Val153Ile
XM_017005799.1:c.85G>A XP_016861288.1:p.Val29Ile
NM_198859.4:c.457G>A MANE Select NP_942559.1:p.Val153Ile
NM_001370528.1:c.457G>A NP_001357457.1:p.Val153Ile