Canonical Allele Identifier: CA1485101458

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621327G= , CM000666.2:g.110621327G=	GRCh38
NC_000004.11:g.111542483G= , CM000666.1:g.111542483G=	GRCh37
NC_000004.10:g.111761932G=	NCBI36
NG_007120.1:g.21026C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2639C=	ENSP00000484763.2:n.185-2639C=
ENST00000614423.5:c.146C=	ENSP00000481951.2:p.Ala49=
ENST00000616641.5:n.214C=
ENST00000644488.2:n.218C=
ENST00000394595.8:c.227C=	ENSP00000378095.4:p.Ala76=
ENST00000644488.1:n.290C=
ENST00000644743.1:c.248C= MANE Select	ENSP00000495061.1:p.Ala83=
ENST00000645131.1:n.179C=
ENST00000306732.7:c.248C=	ENSP00000304169.3:p.Ala83=
ENST00000354925.6:c.227C=	ENSP00000347004.2:p.Ala76=
ENST00000355080.9:c.89C=	ENSP00000347192.5:p.Ala30=
ENST00000394595.7:c.185-2639C=	ENSP00000378095.3:n.185-2639C=
ENST00000394598.6:c.227C=	ENSP00000378097.2:p.Ala76=
ENST00000511837.5:c.227C=	ENSP00000421454.1:p.Ala76=
ENST00000511990.1:c.89C=	ENSP00000424142.1:p.Ala30=
ENST00000557119.2:c.248C=	ENSP00000475617.1:p.Ala83=
ENST00000613094.4:c.227C=	ENSP00000484763.1:p.Ala76=
ENST00000614423.4:c.227C=	ENSP00000481951.1:p.Ala76=
ENST00000616641.4:c.89C=	ENSP00000484909.1:p.Ala30=
NM_000325.5:c.248C=	NP_000316.2:p.Ala83=
NM_001204397.1:c.227C=	NP_001191326.1:p.Ala76=
NM_001204398.1:c.227C=	NP_001191327.1:p.Ala76=
NM_001204399.1:c.89C=	NP_001191328.1:p.Ala30=
NM_153426.2:c.227C=	NP_700475.1:p.Ala76=
NM_153427.2:c.89C=	NP_700476.1:p.Ala30=
XM_006714235.2:c.227C=	XP_006714298.1:p.Ala76=
XM_011532027.1:c.89C=	XP_011530329.1:p.Ala30=
XM_024454090.1:c.-107C=	XP_024309858.1:n.-107C=
NM_000325.6:c.248C= MANE Select	NP_000316.2:p.Ala83=
NM_001204397.2:c.227C=	NP_001191326.1:p.Ala76=
NM_153426.3:c.227C=	NP_700475.1:p.Ala76=
NM_153427.3:c.89C=	NP_700476.1:p.Ala30=