Canonical Allele Identifier: CA357984232

Gene: PITX2

Linked Data

• dbSNP Id: rs2110431943
• gnomAD v4: 4-110618576-T-C
• MyVariant Identifiers: chr4:g.111539732T>C (hg19) ; chr4:g.110618576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618576T>C , CM000666.2:g.110618576T>C	GRCh38
NC_000004.11:g.111539732T>C , CM000666.1:g.111539732T>C	GRCh37
NC_000004.10:g.111759181T>C	NCBI36
NG_007120.1:g.23777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.297A>G	ENSP00000484763.2:p.Arg99=
ENST00000614423.5:c.422A>G	ENSP00000481951.2:p.Asp141Gly
ENST00000616641.5:n.490A>G
ENST00000644488.2:n.494A>G
ENST00000394595.8:c.503A>G	ENSP00000378095.4:p.Asp168Gly
ENST00000644488.1:n.566A>G
ENST00000644743.1:c.524A>G MANE Select	ENSP00000495061.1:p.Asp175Gly
ENST00000645131.1:n.455A>G
ENST00000306732.7:c.524A>G	ENSP00000304169.3:p.Asp175Gly
ENST00000354925.6:c.503A>G	ENSP00000347004.2:p.Asp168Gly
ENST00000355080.9:c.365A>G	ENSP00000347192.5:p.Asp122Gly
ENST00000394595.7:c.297A>G	ENSP00000378095.3:p.Arg99=
ENST00000394598.6:c.503A>G	ENSP00000378097.2:p.Asp168Gly
ENST00000511837.5:c.503A>G	ENSP00000421454.1:p.Asp168Gly
ENST00000556049.1:n.830A>G
ENST00000607868.1:n.251A>G
ENST00000613094.4:c.503A>G	ENSP00000484763.1:p.Asp168Gly
ENST00000614423.4:c.503A>G	ENSP00000481951.1:p.Asp168Gly
ENST00000616641.4:c.365A>G	ENSP00000484909.1:p.Asp122Gly
NM_000325.5:c.524A>G	NP_000316.2:p.Asp175Gly
NM_001204397.1:c.503A>G	NP_001191326.1:p.Asp168Gly
NM_001204398.1:c.503A>G	NP_001191327.1:p.Asp168Gly
NM_001204399.1:c.365A>G	NP_001191328.1:p.Asp122Gly
NM_153426.2:c.503A>G	NP_700475.1:p.Asp168Gly
NM_153427.2:c.365A>G	NP_700476.1:p.Asp122Gly
XM_006714235.2:c.503A>G	XP_006714298.1:p.Asp168Gly
XM_011532027.1:c.365A>G	XP_011530329.1:p.Asp122Gly
XM_024454090.1:c.170A>G	XP_024309858.1:p.Asp57Gly
NM_000325.6:c.524A>G MANE Select	NP_000316.2:p.Asp175Gly
NM_001204397.2:c.503A>G	NP_001191326.1:p.Asp168Gly
NM_153426.3:c.503A>G	NP_700475.1:p.Asp168Gly
NM_153427.3:c.365A>G	NP_700476.1:p.Asp122Gly