Canonical Allele Identifier: CA203530

Gene: PRICKLE2

Linked Data

• ClinVar Variation Id: 198631
• ClinVar RCV Id: RCV000180020 ; RCV000544981 ; RCV001148150
• dbSNP Id: rs180903875
• ExAC: 3:64133384 A / G
• gnomAD v2: 3-64133384-A-G
• gnomAD v3: 3-64147708-A-G
• gnomAD v4: 3-64147708-A-G
• MyVariant Identifiers: chr3:g.64133384A>G (hg19) ; chr3:g.64147708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.64147708A>G , CM000665.2:g.64147708A>G	GRCh38
NC_000003.11:g.64133384A>G , CM000665.1:g.64133384A>G	GRCh37
NC_000003.10:g.64108424A>G	NCBI36
NG_031930.1:g.82748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295902.11:c.956-6T>C	ENSP00000295902.7:n.956-6T>C
ENST00000564377.6:c.788-6T>C	ENSP00000455004.2:n.788-6T>C
ENST00000638394.2:c.788-6T>C MANE Select	ENSP00000492363.1:n.788-6T>C
ENST00000640095.1:n.1856-6T>C
ENST00000640303.1:n.1427-6T>C
ENST00000295902.10:c.788-6T>C	ENSP00000295902.6:n.788-6T>C
ENST00000564377.5:c.956-6T>C	ENSP00000455004.1:n.956-6T>C
NM_198859.3:c.788-6T>C	NP_942559.1:n.788-6T>C
XM_011533432.1:c.1064-6T>C	XP_011531734.1:n.1064-6T>C
XM_011533433.1:c.1064-6T>C	XP_011531735.1:n.1064-6T>C
XM_011533434.1:c.956-6T>C	XP_011531736.1:n.956-6T>C
XM_011533435.1:c.956-6T>C	XP_011531737.1:n.956-6T>C
XM_011533436.1:c.788-6T>C	XP_011531738.1:n.788-6T>C
XM_011533437.1:c.788-6T>C	XP_011531739.1:n.788-6T>C
XM_011533438.1:c.437-6T>C	XP_011531740.1:n.437-6T>C
XM_011533439.1:c.788-6T>C	XP_011531741.1:n.788-6T>C
XM_011533440.1:c.1064-6T>C	XP_011531742.1:n.1064-6T>C
XM_011533432.2:c.1064-6T>C	XP_011531734.1:n.1064-6T>C
XM_011533433.2:c.1064-6T>C	XP_011531735.1:n.1064-6T>C
XM_011533434.2:c.956-6T>C	XP_011531736.1:n.956-6T>C
XM_011533435.2:c.956-6T>C	XP_011531737.1:n.956-6T>C
XM_011533436.3:c.788-6T>C	XP_011531738.1:n.788-6T>C
XM_011533437.2:c.788-6T>C	XP_011531739.1:n.788-6T>C
XM_011533438.2:c.437-6T>C	XP_011531740.1:n.437-6T>C
XM_011533440.2:c.1064-6T>C	XP_011531742.1:n.1064-6T>C
XM_017005798.1:c.788-6T>C	XP_016861287.1:n.788-6T>C
XM_017005799.1:c.416-6T>C	XP_016861288.1:n.416-6T>C
NM_198859.4:c.788-6T>C MANE Select	NP_942559.1:n.788-6T>C
NM_001370528.1:c.788-6T>C	NP_001357457.1:n.788-6T>C