Canonical Allele Identifier: CA2580071400

Gene: PITX2

Linked Data

• ClinVar Variation Id: 2019449
• ClinVar RCV Id: RCV002871069

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618625_110618631dup , CM000666.2:g.110618625_110618631dup	GRCh38
NC_000004.11:g.111539781_111539787dup , CM000666.1:g.111539781_111539787dup	GRCh37
NC_000004.10:g.111759230_111759236dup	NCBI36
NG_007120.1:g.23723_23729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.243_249dup	ENSP00000484763.2:p.Gln84SerfsTer?
ENST00000614423.5:c.368_374dup	ENSP00000481951.2:p.Cys125Ter
ENST00000616641.5:n.436_442dup
ENST00000644488.2:n.440_446dup
ENST00000394595.8:c.449_455dup	ENSP00000378095.4:p.Cys152Ter
ENST00000644488.1:n.512_518dup
ENST00000644743.1:c.470_476dup MANE Select	ENSP00000495061.1:p.Cys159Ter
ENST00000645131.1:n.401_407dup
ENST00000306732.7:c.470_476dup	ENSP00000304169.3:p.Cys159Ter
ENST00000354925.6:c.449_455dup	ENSP00000347004.2:p.Cys152Ter
ENST00000355080.9:c.311_317dup	ENSP00000347192.5:p.Cys106Ter
ENST00000394595.7:c.243_249dup	ENSP00000378095.3:p.Gln84SerfsTer?
ENST00000394598.6:c.449_455dup	ENSP00000378097.2:p.Cys152Ter
ENST00000511837.5:c.449_455dup	ENSP00000421454.1:p.Cys152Ter
ENST00000511990.1:c.311_317dup	ENSP00000424142.1:p.Cys106Ter
ENST00000556049.1:n.776_782dup
ENST00000607868.1:n.197_203dup
ENST00000613094.4:c.449_455dup	ENSP00000484763.1:p.Cys152Ter
ENST00000614423.4:c.449_455dup	ENSP00000481951.1:p.Cys152Ter
ENST00000616641.4:c.311_317dup	ENSP00000484909.1:p.Cys106Ter
NM_000325.5:c.470_476dup	NP_000316.2:p.Cys159Ter
NM_001204397.1:c.449_455dup	NP_001191326.1:p.Cys152Ter
NM_001204398.1:c.449_455dup	NP_001191327.1:p.Cys152Ter
NM_001204399.1:c.311_317dup	NP_001191328.1:p.Cys106Ter
NM_153426.2:c.449_455dup	NP_700475.1:p.Cys152Ter
NM_153427.2:c.311_317dup	NP_700476.1:p.Cys106Ter
XM_006714235.2:c.449_455dup	XP_006714298.1:p.Cys152Ter
XM_011532027.1:c.311_317dup	XP_011530329.1:p.Cys106Ter
XM_024454090.1:c.116_122dup	XP_024309858.1:p.Cys41Ter
NM_000325.6:c.470_476dup MANE Select	NP_000316.2:p.Cys159Ter
NM_001204397.2:c.449_455dup	NP_001191326.1:p.Cys152Ter
NM_153426.3:c.449_455dup	NP_700475.1:p.Cys152Ter
NM_153427.3:c.311_317dup	NP_700476.1:p.Cys106Ter