Canonical Allele Identifier: CA440822411

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111542362T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621206T>C , CM000666.2:g.110621206T>C	GRCh38
NC_000004.11:g.111542362T>C , CM000666.1:g.111542362T>C	GRCh37
NC_000004.10:g.111761811T>C	NCBI36
NG_007120.1:g.21147A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.185-2518A>G	ENSP00000484763.2:n.185-2518A>G
ENST00000614423.5:c.267A>G	ENSP00000481951.2:p.Glu89=
ENST00000616641.5:n.335A>G
ENST00000644488.2:n.339A>G
ENST00000394595.8:c.348A>G	ENSP00000378095.4:p.Glu116=
ENST00000644488.1:n.411A>G
ENST00000644743.1:c.369A>G MANE Select	ENSP00000495061.1:p.Glu123=
ENST00000645131.1:n.300A>G
ENST00000306732.7:c.369A>G	ENSP00000304169.3:p.Glu123=
ENST00000354925.6:c.348A>G	ENSP00000347004.2:p.Glu116=
ENST00000355080.9:c.210A>G	ENSP00000347192.5:p.Glu70=
ENST00000394595.7:c.185-2518A>G	ENSP00000378095.3:n.185-2518A>G
ENST00000394598.6:c.348A>G	ENSP00000378097.2:p.Glu116=
ENST00000511837.5:c.348A>G	ENSP00000421454.1:p.Glu116=
ENST00000511990.1:c.210A>G	ENSP00000424142.1:p.Glu70=
ENST00000557119.2:c.369A>G	ENSP00000475617.1:p.Glu123=
ENST00000613094.4:c.348A>G	ENSP00000484763.1:p.Glu116=
ENST00000614423.4:c.348A>G	ENSP00000481951.1:p.Glu116=
ENST00000616641.4:c.210A>G	ENSP00000484909.1:p.Glu70=
NM_000325.5:c.369A>G	NP_000316.2:p.Glu123=
NM_001204397.1:c.348A>G	NP_001191326.1:p.Glu116=
NM_001204398.1:c.348A>G	NP_001191327.1:p.Glu116=
NM_001204399.1:c.210A>G	NP_001191328.1:p.Glu70=
NM_153426.2:c.348A>G	NP_700475.1:p.Glu116=
NM_153427.2:c.210A>G	NP_700476.1:p.Glu70=
XM_006714235.2:c.348A>G	XP_006714298.1:p.Glu116=
XM_011532027.1:c.210A>G	XP_011530329.1:p.Glu70=
XM_024454090.1:c.15A>G	XP_024309858.1:p.Glu5=
NM_000325.6:c.369A>G MANE Select	NP_000316.2:p.Glu123=
NM_001204397.2:c.348A>G	NP_001191326.1:p.Glu116=
NM_153426.3:c.348A>G	NP_700475.1:p.Glu116=
NM_153427.3:c.210A>G	NP_700476.1:p.Glu70=