Canonical Allele Identifier: CA357983834

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111539587A>T (hg19) ; chr4:g.110618431A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618431A>T , CM000666.2:g.110618431A>T	GRCh38
NC_000004.11:g.111539587A>T , CM000666.1:g.111539587A>T	GRCh37
NC_000004.10:g.111759036A>T	NCBI36
NG_007120.1:g.23922T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.442T>A	ENSP00000484763.2:p.Tyr148Asn
ENST00000614423.5:c.567T>A	ENSP00000481951.2:p.Ser189=
ENST00000616641.5:n.635T>A
ENST00000644488.2:n.639T>A
ENST00000394595.8:c.648T>A	ENSP00000378095.4:p.Ser216=
ENST00000644488.1:n.711T>A
ENST00000644743.1:c.669T>A MANE Select	ENSP00000495061.1:p.Ser223=
ENST00000645131.1:n.600T>A
ENST00000306732.7:c.669T>A	ENSP00000304169.3:p.Ser223=
ENST00000354925.6:c.648T>A	ENSP00000347004.2:p.Ser216=
ENST00000355080.9:c.510T>A	ENSP00000347192.5:p.Ser170=
ENST00000394595.7:c.442T>A	ENSP00000378095.3:p.Tyr148Asn
ENST00000394598.6:c.648T>A	ENSP00000378097.2:p.Ser216=
ENST00000511837.5:c.648T>A	ENSP00000421454.1:p.Ser216=
ENST00000607868.1:n.396T>A
ENST00000613094.4:c.648T>A	ENSP00000484763.1:p.Ser216=
ENST00000614423.4:c.648T>A	ENSP00000481951.1:p.Ser216=
ENST00000616641.4:c.510T>A	ENSP00000484909.1:p.Ser170=
NM_000325.5:c.669T>A	NP_000316.2:p.Ser223=
NM_001204397.1:c.648T>A	NP_001191326.1:p.Ser216=
NM_001204398.1:c.648T>A	NP_001191327.1:p.Ser216=
NM_001204399.1:c.510T>A	NP_001191328.1:p.Ser170=
NM_153426.2:c.648T>A	NP_700475.1:p.Ser216=
NM_153427.2:c.510T>A	NP_700476.1:p.Ser170=
XM_006714235.2:c.648T>A	XP_006714298.1:p.Ser216=
XM_011532027.1:c.510T>A	XP_011530329.1:p.Ser170=
XM_024454090.1:c.315T>A	XP_024309858.1:p.Ser105=
NM_000325.6:c.669T>A MANE Select	NP_000316.2:p.Ser223=
NM_001204397.2:c.648T>A	NP_001191326.1:p.Ser216=
NM_153426.3:c.648T>A	NP_700475.1:p.Ser216=
NM_153427.3:c.510T>A	NP_700476.1:p.Ser170=