Canonical Allele Identifier: CA357984219

Gene: PITX2

Linked Data

• gnomAD v4: 4-110618572-G-A
• MyVariant Identifiers: chr4:g.111539728G>A (hg19) ; chr4:g.110618572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618572G>A , CM000666.2:g.110618572G>A	GRCh38
NC_000004.11:g.111539728G>A , CM000666.1:g.111539728G>A	GRCh37
NC_000004.10:g.111759177G>A	NCBI36
NG_007120.1:g.23781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.301C>T	ENSP00000484763.2:p.His101Tyr
ENST00000614423.5:c.426C>T	ENSP00000481951.2:p.Asp142=
ENST00000616641.5:n.494C>T
ENST00000644488.2:n.498C>T
ENST00000394595.8:c.507C>T	ENSP00000378095.4:p.Asp169=
ENST00000644488.1:n.570C>T
ENST00000644743.1:c.528C>T MANE Select	ENSP00000495061.1:p.Asp176=
ENST00000645131.1:n.459C>T
ENST00000306732.7:c.528C>T	ENSP00000304169.3:p.Asp176=
ENST00000354925.6:c.507C>T	ENSP00000347004.2:p.Asp169=
ENST00000355080.9:c.369C>T	ENSP00000347192.5:p.Asp123=
ENST00000394595.7:c.301C>T	ENSP00000378095.3:p.His101Tyr
ENST00000394598.6:c.507C>T	ENSP00000378097.2:p.Asp169=
ENST00000511837.5:c.507C>T	ENSP00000421454.1:p.Asp169=
ENST00000556049.1:n.834C>T
ENST00000607868.1:n.255C>T
ENST00000613094.4:c.507C>T	ENSP00000484763.1:p.Asp169=
ENST00000614423.4:c.507C>T	ENSP00000481951.1:p.Asp169=
ENST00000616641.4:c.369C>T	ENSP00000484909.1:p.Asp123=
NM_000325.5:c.528C>T	NP_000316.2:p.Asp176=
NM_001204397.1:c.507C>T	NP_001191326.1:p.Asp169=
NM_001204398.1:c.507C>T	NP_001191327.1:p.Asp169=
NM_001204399.1:c.369C>T	NP_001191328.1:p.Asp123=
NM_153426.2:c.507C>T	NP_700475.1:p.Asp169=
NM_153427.2:c.369C>T	NP_700476.1:p.Asp123=
XM_006714235.2:c.507C>T	XP_006714298.1:p.Asp169=
XM_011532027.1:c.369C>T	XP_011530329.1:p.Asp123=
XM_024454090.1:c.174C>T	XP_024309858.1:p.Asp58=
NM_000325.6:c.528C>T MANE Select	NP_000316.2:p.Asp176=
NM_001204397.2:c.507C>T	NP_001191326.1:p.Asp169=
NM_153426.3:c.507C>T	NP_700475.1:p.Asp169=
NM_153427.3:c.369C>T	NP_700476.1:p.Asp123=