Canonical Allele Identifier: CA357985493

Gene: PITX2

Linked Data

• ClinVar Variation Id: 2203569
• ClinVar RCV Id: RCV002651846
• MyVariant Identifiers: chr4:g.111542381G>C (hg19) ; chr4:g.110621225G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621225G>C , CM000666.2:g.110621225G>C	GRCh38
NC_000004.11:g.111542381G>C , CM000666.1:g.111542381G>C	GRCh37
NC_000004.10:g.111761830G>C	NCBI36
NG_007120.1:g.21128C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2537C>G	ENSP00000484763.2:n.185-2537C>G
ENST00000614423.5:c.248C>G	ENSP00000481951.2:p.Pro83Arg
ENST00000616641.5:n.316C>G
ENST00000644488.2:n.320C>G
ENST00000394595.8:c.329C>G	ENSP00000378095.4:p.Pro110Arg
ENST00000644488.1:n.392C>G
ENST00000644743.1:c.350C>G MANE Select	ENSP00000495061.1:p.Pro117Arg
ENST00000645131.1:n.281C>G
ENST00000306732.7:c.350C>G	ENSP00000304169.3:p.Pro117Arg
ENST00000354925.6:c.329C>G	ENSP00000347004.2:p.Pro110Arg
ENST00000355080.9:c.191C>G	ENSP00000347192.5:p.Pro64Arg
ENST00000394595.7:c.185-2537C>G	ENSP00000378095.3:n.185-2537C>G
ENST00000394598.6:c.329C>G	ENSP00000378097.2:p.Pro110Arg
ENST00000511837.5:c.329C>G	ENSP00000421454.1:p.Pro110Arg
ENST00000511990.1:c.191C>G	ENSP00000424142.1:p.Pro64Arg
ENST00000557119.2:c.350C>G	ENSP00000475617.1:p.Pro117Arg
ENST00000613094.4:c.329C>G	ENSP00000484763.1:p.Pro110Arg
ENST00000614423.4:c.329C>G	ENSP00000481951.1:p.Pro110Arg
ENST00000616641.4:c.191C>G	ENSP00000484909.1:p.Pro64Arg
NM_000325.5:c.350C>G	NP_000316.2:p.Pro117Arg
NM_001204397.1:c.329C>G	NP_001191326.1:p.Pro110Arg
NM_001204398.1:c.329C>G	NP_001191327.1:p.Pro110Arg
NM_001204399.1:c.191C>G	NP_001191328.1:p.Pro64Arg
NM_153426.2:c.329C>G	NP_700475.1:p.Pro110Arg
NM_153427.2:c.191C>G	NP_700476.1:p.Pro64Arg
XM_006714235.2:c.329C>G	XP_006714298.1:p.Pro110Arg
XM_011532027.1:c.191C>G	XP_011530329.1:p.Pro64Arg
XM_024454090.1:c.-5C>G	XP_024309858.1:n.-5C>G
NM_000325.6:c.350C>G MANE Select	NP_000316.2:p.Pro117Arg
NM_001204397.2:c.329C>G	NP_001191326.1:p.Pro110Arg
NM_153426.3:c.329C>G	NP_700475.1:p.Pro110Arg
NM_153427.3:c.191C>G	NP_700476.1:p.Pro64Arg