Canonical Allele Identifier: CA357984233

Gene: PITX2

Linked Data

• dbSNP Id: rs1728873453
• MyVariant Identifiers: chr4:g.111539733C>A (hg19) ; chr4:g.110618577C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618577C>A , CM000666.2:g.110618577C>A	GRCh38
NC_000004.11:g.111539733C>A , CM000666.1:g.111539733C>A	GRCh37
NC_000004.10:g.111759182C>A	NCBI36
NG_007120.1:g.23776G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.296G>T	ENSP00000484763.2:p.Arg99Leu
ENST00000614423.5:c.421G>T	ENSP00000481951.2:p.Asp141Tyr
ENST00000616641.5:n.489G>T
ENST00000644488.2:n.493G>T
ENST00000394595.8:c.502G>T	ENSP00000378095.4:p.Asp168Tyr
ENST00000644488.1:n.565G>T
ENST00000644743.1:c.523G>T MANE Select	ENSP00000495061.1:p.Asp175Tyr
ENST00000645131.1:n.454G>T
ENST00000306732.7:c.523G>T	ENSP00000304169.3:p.Asp175Tyr
ENST00000354925.6:c.502G>T	ENSP00000347004.2:p.Asp168Tyr
ENST00000355080.9:c.364G>T	ENSP00000347192.5:p.Asp122Tyr
ENST00000394595.7:c.296G>T	ENSP00000378095.3:p.Arg99Leu
ENST00000394598.6:c.502G>T	ENSP00000378097.2:p.Asp168Tyr
ENST00000511837.5:c.502G>T	ENSP00000421454.1:p.Asp168Tyr
ENST00000556049.1:n.829G>T
ENST00000607868.1:n.250G>T
ENST00000613094.4:c.502G>T	ENSP00000484763.1:p.Asp168Tyr
ENST00000614423.4:c.502G>T	ENSP00000481951.1:p.Asp168Tyr
ENST00000616641.4:c.364G>T	ENSP00000484909.1:p.Asp122Tyr
NM_000325.5:c.523G>T	NP_000316.2:p.Asp175Tyr
NM_001204397.1:c.502G>T	NP_001191326.1:p.Asp168Tyr
NM_001204398.1:c.502G>T	NP_001191327.1:p.Asp168Tyr
NM_001204399.1:c.364G>T	NP_001191328.1:p.Asp122Tyr
NM_153426.2:c.502G>T	NP_700475.1:p.Asp168Tyr
NM_153427.2:c.364G>T	NP_700476.1:p.Asp122Tyr
XM_006714235.2:c.502G>T	XP_006714298.1:p.Asp168Tyr
XM_011532027.1:c.364G>T	XP_011530329.1:p.Asp122Tyr
XM_024454090.1:c.169G>T	XP_024309858.1:p.Asp57Tyr
NM_000325.6:c.523G>T MANE Select	NP_000316.2:p.Asp175Tyr
NM_001204397.2:c.502G>T	NP_001191326.1:p.Asp168Tyr
NM_153426.3:c.502G>T	NP_700475.1:p.Asp168Tyr
NM_153427.3:c.364G>T	NP_700476.1:p.Asp122Tyr