Canonical Allele Identifier: CA75738184

Gene: PRICKLE2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.64159433A>G , CM000665.2:g.64159433A>G	GRCh38
NC_000003.11:g.64145109A>G , CM000665.1:g.64145109A>G	GRCh37
NC_000003.10:g.64120149A>G	NCBI36
NG_031930.1:g.71023T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_198859.4:c.396+507T>C MANE Select	NP_942559.1:n.396+507T>C
ENST00000638394.2:c.396+507T>C MANE Select	ENSP00000492363.1:n.396+507T>C
NM_001370528.1:c.396+507T>C	NP_001357457.1:n.396+507T>C
NM_198859.3:c.396+507T>C	NP_942559.1:n.396+507T>C
ENST00000295902.10:c.396+507T>C	ENSP00000295902.6:n.396+507T>C
ENST00000295902.11:c.564+507T>C	ENSP00000295902.7:n.564+507T>C
ENST00000498162.1:c.396+507T>C	ENSP00000419951.1:n.396+507T>C
ENST00000564377.5:c.564+507T>C	ENSP00000455004.1:n.564+507T>C
ENST00000564377.6:c.396+507T>C	ENSP00000455004.2:n.396+507T>C
ENST00000640303.1:n.1035+507T>C
XM_011533432.1:c.672+507T>C	XP_011531734.1:n.672+507T>C
XM_011533432.2:c.672+507T>C	XP_011531734.1:n.672+507T>C
XM_011533433.1:c.672+507T>C	XP_011531735.1:n.672+507T>C
XM_011533433.2:c.672+507T>C	XP_011531735.1:n.672+507T>C
XM_011533434.1:c.564+507T>C	XP_011531736.1:n.564+507T>C
XM_011533434.2:c.564+507T>C	XP_011531736.1:n.564+507T>C
XM_011533435.1:c.564+507T>C	XP_011531737.1:n.564+507T>C
XM_011533435.2:c.564+507T>C	XP_011531737.1:n.564+507T>C
XM_011533436.1:c.396+507T>C	XP_011531738.1:n.396+507T>C
XM_011533436.3:c.396+507T>C	XP_011531738.1:n.396+507T>C
XM_011533437.1:c.396+507T>C	XP_011531739.1:n.396+507T>C
XM_011533437.2:c.396+507T>C	XP_011531739.1:n.396+507T>C
XM_011533438.1:c.-181T>C	XP_011531740.1:n.-181T>C
XM_011533438.2:c.-181T>C	XP_011531740.1:n.-181T>C
XM_011533439.1:c.396+507T>C	XP_011531741.1:n.396+507T>C
XM_011533440.1:c.672+507T>C	XP_011531742.1:n.672+507T>C
XM_011533440.2:c.672+507T>C	XP_011531742.1:n.672+507T>C
XM_017005798.1:c.396+507T>C	XP_016861287.1:n.396+507T>C
XM_017005799.1:c.24+507T>C	XP_016861288.1:n.24+507T>C