Canonical Allele Identifier: CA10619378

Gene: PRICKLE2

Linked Data

• ClinVar Variation Id: 346478
• ClinVar RCV Id: RCV000374414
• dbSNP Id: rs886058801
• gnomAD v2: 3-64142948-C-A
• gnomAD v4: 3-64157272-C-A
• MyVariant Identifiers: chr3:g.64142948C>A (hg19) ; chr3:g.64157272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.64157272C>A , CM000665.2:g.64157272C>A	GRCh38
NC_000003.11:g.64142948C>A , CM000665.1:g.64142948C>A	GRCh37
NC_000003.10:g.64117988C>A	NCBI36
NG_031930.1:g.73184G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295902.11:c.658G>T	ENSP00000295902.7:p.Val220Phe
ENST00000564377.6:c.490G>T	ENSP00000455004.2:p.Val164Phe
ENST00000638394.2:c.490G>T MANE Select	ENSP00000492363.1:p.Val164Phe
ENST00000640303.1:n.1129G>T
ENST00000295902.10:c.490G>T	ENSP00000295902.6:p.Val164Phe
ENST00000564377.5:c.658G>T	ENSP00000455004.1:p.Val220Phe
NM_198859.3:c.490G>T	NP_942559.1:p.Val164Phe
XM_011533432.1:c.766G>T	XP_011531734.1:p.Val256Phe
XM_011533433.1:c.766G>T	XP_011531735.1:p.Val256Phe
XM_011533434.1:c.658G>T	XP_011531736.1:p.Val220Phe
XM_011533435.1:c.658G>T	XP_011531737.1:p.Val220Phe
XM_011533436.1:c.490G>T	XP_011531738.1:p.Val164Phe
XM_011533437.1:c.490G>T	XP_011531739.1:p.Val164Phe
XM_011533438.1:c.139G>T	XP_011531740.1:p.Val47Phe
XM_011533439.1:c.490G>T	XP_011531741.1:p.Val164Phe
XM_011533440.1:c.766G>T	XP_011531742.1:p.Val256Phe
XM_011533432.2:c.766G>T	XP_011531734.1:p.Val256Phe
XM_011533433.2:c.766G>T	XP_011531735.1:p.Val256Phe
XM_011533434.2:c.658G>T	XP_011531736.1:p.Val220Phe
XM_011533435.2:c.658G>T	XP_011531737.1:p.Val220Phe
XM_011533436.3:c.490G>T	XP_011531738.1:p.Val164Phe
XM_011533437.2:c.490G>T	XP_011531739.1:p.Val164Phe
XM_011533438.2:c.139G>T	XP_011531740.1:p.Val47Phe
XM_011533440.2:c.766G>T	XP_011531742.1:p.Val256Phe
XM_017005798.1:c.490G>T	XP_016861287.1:p.Val164Phe
XM_017005799.1:c.118G>T	XP_016861288.1:p.Val40Phe
NM_198859.4:c.490G>T MANE Select	NP_942559.1:p.Val164Phe
NM_001370528.1:c.490G>T	NP_001357457.1:p.Val164Phe