Canonical Allele Identifier: CA129016
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 30197
ClinVar RCV Id: RCV000023116
dbSNP Id: rs387906810

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618679T>C , CM000666.2:g.110618679T>C GRCh38
NC_000004.11:g.111539835T>C , CM000666.1:g.111539835T>C GRCh37
NC_000004.10:g.111759284T>C NCBI36
NG_007120.1:g.23674A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000613094.5:c.194A>G ENSP00000484763.2:p.Gln65Arg
ENST00000614423.5:c.319A>G ENSP00000481951.2:p.Lys107Glu
ENST00000616641.5:n.387A>G
ENST00000644488.2:n.391A>G
ENST00000394595.8:c.400A>G ENSP00000378095.4:p.Lys134Glu
ENST00000644488.1:n.463A>G
ENST00000644743.1:c.421A>G MANE Select ENSP00000495061.1:p.Lys141Glu
ENST00000645131.1:n.352A>G
ENST00000306732.7:c.421A>G ENSP00000304169.3:p.Lys141Glu
ENST00000354925.6:c.400A>G ENSP00000347004.2:p.Lys134Glu
ENST00000355080.9:c.262A>G ENSP00000347192.5:p.Lys88Glu
ENST00000394595.7:c.194A>G ENSP00000378095.3:p.Gln65Arg
ENST00000394598.6:c.400A>G ENSP00000378097.2:p.Lys134Glu
ENST00000511837.5:c.400A>G ENSP00000421454.1:p.Lys134Glu
ENST00000511990.1:c.262A>G ENSP00000424142.1:p.Lys88Glu
ENST00000556049.1:n.727A>G
ENST00000607868.1:n.148A>G
ENST00000613094.4:c.400A>G ENSP00000484763.1:p.Lys134Glu
ENST00000614423.4:c.400A>G ENSP00000481951.1:p.Lys134Glu
ENST00000616641.4:c.262A>G ENSP00000484909.1:p.Lys88Glu
NM_000325.5:c.421A>G NP_000316.2:p.Lys141Glu
NM_001204397.1:c.400A>G NP_001191326.1:p.Lys134Glu
NM_001204398.1:c.400A>G NP_001191327.1:p.Lys134Glu
NM_001204399.1:c.262A>G NP_001191328.1:p.Lys88Glu
NM_153426.2:c.400A>G NP_700475.1:p.Lys134Glu
NM_153427.2:c.262A>G NP_700476.1:p.Lys88Glu
XM_006714235.2:c.400A>G XP_006714298.1:p.Lys134Glu
XM_011532027.1:c.262A>G XP_011530329.1:p.Lys88Glu
XM_024454090.1:c.67A>G XP_024309858.1:p.Lys23Glu
NM_000325.6:c.421A>G MANE Select NP_000316.2:p.Lys141Glu
NM_001204397.2:c.400A>G NP_001191326.1:p.Lys134Glu
NM_153426.3:c.400A>G NP_700475.1:p.Lys134Glu
NM_153427.3:c.262A>G NP_700476.1:p.Lys88Glu