Canonical Allele Identifier: CA357984372
Gene: PITX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110618627A>T , CM000666.2:g.110618627A>T GRCh38
NC_000004.11:g.111539783A>T , CM000666.1:g.111539783A>T GRCh37
NC_000004.10:g.111759232A>T NCBI36
NG_007120.1:g.23726T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.246T>A ENSP00000484763.2:p.Ala82=
ENST00000614423.5:c.371T>A ENSP00000481951.2:p.Leu124Gln
ENST00000616641.5:n.439T>A
ENST00000644488.2:n.443T>A
ENST00000394595.8:c.452T>A ENSP00000378095.4:p.Leu151Gln
ENST00000644488.1:n.515T>A
ENST00000644743.1:c.473T>A MANE Select ENSP00000495061.1:p.Leu158Gln
ENST00000645131.1:n.404T>A
ENST00000306732.7:c.473T>A ENSP00000304169.3:p.Leu158Gln
ENST00000354925.6:c.452T>A ENSP00000347004.2:p.Leu151Gln
ENST00000355080.9:c.314T>A ENSP00000347192.5:p.Leu105Gln
ENST00000394595.7:c.246T>A ENSP00000378095.3:p.Ala82=
ENST00000394598.6:c.452T>A ENSP00000378097.2:p.Leu151Gln
ENST00000511837.5:c.452T>A ENSP00000421454.1:p.Leu151Gln
ENST00000511990.1:c.314T>A ENSP00000424142.1:p.Leu105Gln
ENST00000556049.1:n.779T>A
ENST00000607868.1:n.200T>A
ENST00000613094.4:c.452T>A ENSP00000484763.1:p.Leu151Gln
ENST00000614423.4:c.452T>A ENSP00000481951.1:p.Leu151Gln
ENST00000616641.4:c.314T>A ENSP00000484909.1:p.Leu105Gln
NM_000325.5:c.473T>A NP_000316.2:p.Leu158Gln
NM_001204397.1:c.452T>A NP_001191326.1:p.Leu151Gln
NM_001204398.1:c.452T>A NP_001191327.1:p.Leu151Gln
NM_001204399.1:c.314T>A NP_001191328.1:p.Leu105Gln
NM_153426.2:c.452T>A NP_700475.1:p.Leu151Gln
NM_153427.2:c.314T>A NP_700476.1:p.Leu105Gln
XM_006714235.2:c.452T>A XP_006714298.1:p.Leu151Gln
XM_011532027.1:c.314T>A XP_011530329.1:p.Leu105Gln
XM_024454090.1:c.119T>A XP_024309858.1:p.Leu40Gln
NM_000325.6:c.473T>A MANE Select NP_000316.2:p.Leu158Gln
NM_001204397.2:c.452T>A NP_001191326.1:p.Leu151Gln
NM_153426.3:c.452T>A NP_700475.1:p.Leu151Gln
NM_153427.3:c.314T>A NP_700476.1:p.Leu105Gln