Canonical Allele Identifier: CA3045542
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 347300
dbSNP Id: rs201628949

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621351T>G , CM000666.2:g.110621351T>G GRCh38
NC_000004.11:g.111542507T>G , CM000666.1:g.111542507T>G GRCh37
NC_000004.10:g.111761956T>G NCBI36
NG_007120.1:g.21002A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.185-2663A>C ENSP00000484763.2:n.185-2663A>C
ENST00000614423.5:c.122A>C ENSP00000481951.2:p.Gln41Pro
ENST00000616641.5:n.190A>C
ENST00000644488.2:n.194A>C
ENST00000394595.8:c.203A>C ENSP00000378095.4:p.Gln68Pro
ENST00000644488.1:n.266A>C
ENST00000644743.1:c.224A>C MANE Select ENSP00000495061.1:p.Gln75Pro
ENST00000645131.1:n.155A>C
ENST00000306732.7:c.224A>C ENSP00000304169.3:p.Gln75Pro
ENST00000354925.6:c.203A>C ENSP00000347004.2:p.Gln68Pro
ENST00000355080.9:c.65A>C ENSP00000347192.5:p.Gln22Pro
ENST00000394595.7:c.185-2663A>C ENSP00000378095.3:n.185-2663A>C
ENST00000394598.6:c.203A>C ENSP00000378097.2:p.Gln68Pro
ENST00000511837.5:c.203A>C ENSP00000421454.1:p.Gln68Pro
ENST00000511990.1:c.65A>C ENSP00000424142.1:p.Gln22Pro
ENST00000557119.2:c.224A>C ENSP00000475617.1:p.Gln75Pro
ENST00000613094.4:c.203A>C ENSP00000484763.1:p.Gln68Pro
ENST00000614423.4:c.203A>C ENSP00000481951.1:p.Gln68Pro
ENST00000616641.4:c.65A>C ENSP00000484909.1:p.Gln22Pro
NM_000325.5:c.224A>C NP_000316.2:p.Gln75Pro
NM_001204397.1:c.203A>C NP_001191326.1:p.Gln68Pro
NM_001204398.1:c.203A>C NP_001191327.1:p.Gln68Pro
NM_001204399.1:c.65A>C NP_001191328.1:p.Gln22Pro
NM_153426.2:c.203A>C NP_700475.1:p.Gln68Pro
NM_153427.2:c.65A>C NP_700476.1:p.Gln22Pro
XM_006714235.2:c.203A>C XP_006714298.1:p.Gln68Pro
XM_011532027.1:c.65A>C XP_011530329.1:p.Gln22Pro
XM_024454090.1:c.-131A>C XP_024309858.1:n.-131A>C
NM_000325.6:c.224A>C MANE Select NP_000316.2:p.Gln75Pro
NM_001204397.2:c.203A>C NP_001191326.1:p.Gln68Pro
NM_153426.3:c.203A>C NP_700475.1:p.Gln68Pro
NM_153427.3:c.65A>C NP_700476.1:p.Gln22Pro