Canonical Allele Identifier: CA3045537
Gene: PITX2 HGNC NCBI

Linked Data

dbSNP Id: rs763095137

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621327G>C , CM000666.2:g.110621327G>C GRCh38
NC_000004.11:g.111542483G>C , CM000666.1:g.111542483G>C GRCh37
NC_000004.10:g.111761932G>C NCBI36
NG_007120.1:g.21026C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.185-2639C>G ENSP00000484763.2:n.185-2639C>G
ENST00000614423.5:c.146C>G ENSP00000481951.2:p.Ala49Gly
ENST00000616641.5:n.214C>G
ENST00000644488.2:n.218C>G
ENST00000394595.8:c.227C>G ENSP00000378095.4:p.Ala76Gly
ENST00000644488.1:n.290C>G
ENST00000644743.1:c.248C>G MANE Select ENSP00000495061.1:p.Ala83Gly
ENST00000645131.1:n.179C>G
ENST00000306732.7:c.248C>G ENSP00000304169.3:p.Ala83Gly
ENST00000354925.6:c.227C>G ENSP00000347004.2:p.Ala76Gly
ENST00000355080.9:c.89C>G ENSP00000347192.5:p.Ala30Gly
ENST00000394595.7:c.185-2639C>G ENSP00000378095.3:n.185-2639C>G
ENST00000394598.6:c.227C>G ENSP00000378097.2:p.Ala76Gly
ENST00000511837.5:c.227C>G ENSP00000421454.1:p.Ala76Gly
ENST00000511990.1:c.89C>G ENSP00000424142.1:p.Ala30Gly
ENST00000557119.2:c.248C>G ENSP00000475617.1:p.Ala83Gly
ENST00000613094.4:c.227C>G ENSP00000484763.1:p.Ala76Gly
ENST00000614423.4:c.227C>G ENSP00000481951.1:p.Ala76Gly
ENST00000616641.4:c.89C>G ENSP00000484909.1:p.Ala30Gly
NM_000325.5:c.248C>G NP_000316.2:p.Ala83Gly
NM_001204397.1:c.227C>G NP_001191326.1:p.Ala76Gly
NM_001204398.1:c.227C>G NP_001191327.1:p.Ala76Gly
NM_001204399.1:c.89C>G NP_001191328.1:p.Ala30Gly
NM_153426.2:c.227C>G NP_700475.1:p.Ala76Gly
NM_153427.2:c.89C>G NP_700476.1:p.Ala30Gly
XM_006714235.2:c.227C>G XP_006714298.1:p.Ala76Gly
XM_011532027.1:c.89C>G XP_011530329.1:p.Ala30Gly
XM_024454090.1:c.-107C>G XP_024309858.1:n.-107C>G
NM_000325.6:c.248C>G MANE Select NP_000316.2:p.Ala83Gly
NM_001204397.2:c.227C>G NP_001191326.1:p.Ala76Gly
NM_153426.3:c.227C>G NP_700475.1:p.Ala76Gly
NM_153427.3:c.89C>G NP_700476.1:p.Ala30Gly