Canonical Allele Identifier: CA357984533

Gene: PITX2

Linked Data

• ClinVar Variation Id: 647394
• ClinVar RCV Id: RCV000801898 ; RCV002293482
• dbSNP Id: rs772800095
• MyVariant Identifiers: chr4:g.111539840C>G (hg19) ; chr4:g.110618684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618684C>G , CM000666.2:g.110618684C>G	GRCh38
NC_000004.11:g.111539840C>G , CM000666.1:g.111539840C>G	GRCh37
NC_000004.10:g.111759289C>G	NCBI36
NG_007120.1:g.23669G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.189G>C	ENSP00000484763.2:p.Leu63Phe
ENST00000614423.5:c.314G>C	ENSP00000481951.2:p.Trp105Ser
ENST00000616641.5:n.382G>C
ENST00000644488.2:n.386G>C
ENST00000394595.8:c.395G>C	ENSP00000378095.4:p.Trp132Ser
ENST00000644488.1:n.458G>C
ENST00000644743.1:c.416G>C MANE Select	ENSP00000495061.1:p.Trp139Ser
ENST00000645131.1:n.347G>C
ENST00000306732.7:c.416G>C	ENSP00000304169.3:p.Trp139Ser
ENST00000354925.6:c.395G>C	ENSP00000347004.2:p.Trp132Ser
ENST00000355080.9:c.257G>C	ENSP00000347192.5:p.Trp86Ser
ENST00000394595.7:c.189G>C	ENSP00000378095.3:p.Leu63Phe
ENST00000394598.6:c.395G>C	ENSP00000378097.2:p.Trp132Ser
ENST00000511837.5:c.395G>C	ENSP00000421454.1:p.Trp132Ser
ENST00000511990.1:c.257G>C	ENSP00000424142.1:p.Trp86Ser
ENST00000556049.1:n.722G>C
ENST00000607868.1:n.143G>C
ENST00000613094.4:c.395G>C	ENSP00000484763.1:p.Trp132Ser
ENST00000614423.4:c.395G>C	ENSP00000481951.1:p.Trp132Ser
ENST00000616641.4:c.257G>C	ENSP00000484909.1:p.Trp86Ser
NM_000325.5:c.416G>C	NP_000316.2:p.Trp139Ser
NM_001204397.1:c.395G>C	NP_001191326.1:p.Trp132Ser
NM_001204398.1:c.395G>C	NP_001191327.1:p.Trp132Ser
NM_001204399.1:c.257G>C	NP_001191328.1:p.Trp86Ser
NM_153426.2:c.395G>C	NP_700475.1:p.Trp132Ser
NM_153427.2:c.257G>C	NP_700476.1:p.Trp86Ser
XM_006714235.2:c.395G>C	XP_006714298.1:p.Trp132Ser
XM_011532027.1:c.257G>C	XP_011530329.1:p.Trp86Ser
XM_024454090.1:c.62G>C	XP_024309858.1:p.Trp21Ser
NM_000325.6:c.416G>C MANE Select	NP_000316.2:p.Trp139Ser
NM_001204397.2:c.395G>C	NP_001191326.1:p.Trp132Ser
NM_153426.3:c.395G>C	NP_700475.1:p.Trp132Ser
NM_153427.3:c.257G>C	NP_700476.1:p.Trp86Ser