Canonical Allele Identifier: CA2763074235
Gene: PITX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618785_110618786insAGT , CM000666.2:g.110618785_110618786insAGT GRCh38
NC_000004.11:g.111539941_111539942insAGT , CM000666.1:g.111539941_111539942insAGT GRCh37
NC_000004.10:g.111759390_111759391insAGT NCBI36
NG_007120.1:g.23567_23568insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.185-98_185-97insACT ENSP00000484763.2:n.185-98_185-97insACT
ENST00000614423.5:c.310-98_310-97insACT ENSP00000481951.2:n.310-98_310-97insACT
ENST00000616641.5:n.378-98_378-97insACT
ENST00000644488.2:n.382-98_382-97insACT
ENST00000394595.8:c.391-98_391-97insACT ENSP00000378095.4:n.391-98_391-97insACT
ENST00000644488.1:n.454-98_454-97insACT
ENST00000644743.1:c.412-98_412-97insACT MANE Select ENSP00000495061.1:n.412-98_412-97insACT
ENST00000645131.1:n.343-98_343-97insACT
ENST00000306732.7:c.412-98_412-97insACT ENSP00000304169.3:n.412-98_412-97insACT
ENST00000354925.6:c.391-98_391-97insACT ENSP00000347004.2:n.391-98_391-97insACT
ENST00000355080.9:c.253-98_253-97insACT ENSP00000347192.5:n.253-98_253-97insACT
ENST00000394595.7:c.185-98_185-97insACT ENSP00000378095.3:n.185-98_185-97insACT
ENST00000394598.6:c.391-98_391-97insACT ENSP00000378097.2:n.391-98_391-97insACT
ENST00000511837.5:c.391-98_391-97insACT ENSP00000421454.1:n.391-98_391-97insACT
ENST00000511990.1:c.253-98_253-97insACT ENSP00000424142.1:n.253-98_253-97insACT
ENST00000556049.1:n.718-98_718-97insACT
ENST00000607868.1:n.41_42insACT
ENST00000613094.4:c.391-98_391-97insACT ENSP00000484763.1:n.391-98_391-97insACT
ENST00000614423.4:c.391-98_391-97insACT ENSP00000481951.1:n.391-98_391-97insACT
ENST00000616641.4:c.253-98_253-97insACT ENSP00000484909.1:n.253-98_253-97insACT
NM_000325.5:c.412-98_412-97insACT NP_000316.2:n.412-98_412-97insACT
NM_001204397.1:c.391-98_391-97insACT NP_001191326.1:n.391-98_391-97insACT
NM_001204398.1:c.391-98_391-97insACT NP_001191327.1:n.391-98_391-97insACT
NM_001204399.1:c.253-98_253-97insACT NP_001191328.1:n.253-98_253-97insACT
NM_153426.2:c.391-98_391-97insACT NP_700475.1:n.391-98_391-97insACT
NM_153427.2:c.253-98_253-97insACT NP_700476.1:n.253-98_253-97insACT
XM_006714235.2:c.391-98_391-97insACT XP_006714298.1:n.391-98_391-97insACT
XM_011532027.1:c.253-98_253-97insACT XP_011530329.1:n.253-98_253-97insACT
XM_024454090.1:c.58-98_58-97insACT XP_024309858.1:n.58-98_58-97insACT
NM_000325.6:c.412-98_412-97insACT MANE Select NP_000316.2:n.412-98_412-97insACT
NM_001204397.2:c.391-98_391-97insACT NP_001191326.1:n.391-98_391-97insACT
NM_153426.3:c.391-98_391-97insACT NP_700475.1:n.391-98_391-97insACT
NM_153427.3:c.253-98_253-97insACT NP_700476.1:n.253-98_253-97insACT