Canonical Allele Identifier: CA357984272

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111539747A>C (hg19) ; chr4:g.110618591A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618591A>C , CM000666.2:g.110618591A>C	GRCh38
NC_000004.11:g.111539747A>C , CM000666.1:g.111539747A>C	GRCh37
NC_000004.10:g.111759196A>C	NCBI36
NG_007120.1:g.23762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.282T>G	ENSP00000484763.2:p.Ala94=
ENST00000614423.5:c.407T>G	ENSP00000481951.2:p.Leu136Arg
ENST00000616641.5:n.475T>G
ENST00000644488.2:n.479T>G
ENST00000394595.8:c.488T>G	ENSP00000378095.4:p.Leu163Arg
ENST00000644488.1:n.551T>G
ENST00000644743.1:c.509T>G MANE Select	ENSP00000495061.1:p.Leu170Arg
ENST00000645131.1:n.440T>G
ENST00000306732.7:c.509T>G	ENSP00000304169.3:p.Leu170Arg
ENST00000354925.6:c.488T>G	ENSP00000347004.2:p.Leu163Arg
ENST00000355080.9:c.350T>G	ENSP00000347192.5:p.Leu117Arg
ENST00000394595.7:c.282T>G	ENSP00000378095.3:p.Ala94=
ENST00000394598.6:c.488T>G	ENSP00000378097.2:p.Leu163Arg
ENST00000511837.5:c.488T>G	ENSP00000421454.1:p.Leu163Arg
ENST00000511990.1:c.350T>G	ENSP00000424142.1:p.Leu117Arg
ENST00000556049.1:n.815T>G
ENST00000607868.1:n.236T>G
ENST00000613094.4:c.488T>G	ENSP00000484763.1:p.Leu163Arg
ENST00000614423.4:c.488T>G	ENSP00000481951.1:p.Leu163Arg
ENST00000616641.4:c.350T>G	ENSP00000484909.1:p.Leu117Arg
NM_000325.5:c.509T>G	NP_000316.2:p.Leu170Arg
NM_001204397.1:c.488T>G	NP_001191326.1:p.Leu163Arg
NM_001204398.1:c.488T>G	NP_001191327.1:p.Leu163Arg
NM_001204399.1:c.350T>G	NP_001191328.1:p.Leu117Arg
NM_153426.2:c.488T>G	NP_700475.1:p.Leu163Arg
NM_153427.2:c.350T>G	NP_700476.1:p.Leu117Arg
XM_006714235.2:c.488T>G	XP_006714298.1:p.Leu163Arg
XM_011532027.1:c.350T>G	XP_011530329.1:p.Leu117Arg
XM_024454090.1:c.155T>G	XP_024309858.1:p.Leu52Arg
NM_000325.6:c.509T>G MANE Select	NP_000316.2:p.Leu170Arg
NM_001204397.2:c.488T>G	NP_001191326.1:p.Leu163Arg
NM_153426.3:c.488T>G	NP_700475.1:p.Leu163Arg
NM_153427.3:c.350T>G	NP_700476.1:p.Leu117Arg