Canonical Allele Identifier: CA658657398

Gene: PITX2

Linked Data

• ClinVar Variation Id: 474010
• ClinVar RCV Id: RCV000543429
• dbSNP Id: rs1553922891
• MyVariant Identifiers: chr4:g.111542370dup (hg19) ; chr4:g.110621214dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621214dup , CM000666.2:g.110621214dup	GRCh38
NC_000004.11:g.111542370dup , CM000666.1:g.111542370dup	GRCh37
NC_000004.10:g.111761819dup	NCBI36
NG_007120.1:g.21139dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.185-2526dup	ENSP00000484763.2:n.185-2526dup
ENST00000614423.5:c.259dup	ENSP00000481951.2:p.Thr87AsnfsTer?
ENST00000616641.5:n.327dup
ENST00000644488.2:n.331dup
ENST00000394595.8:c.340dup	ENSP00000378095.4:p.Thr114AsnfsTer?
ENST00000644488.1:n.403dup
ENST00000644743.1:c.361dup MANE Select	ENSP00000495061.1:p.Thr121AsnfsTer?
ENST00000645131.1:n.292dup
ENST00000306732.7:c.361dup	ENSP00000304169.3:p.Thr121AsnfsTer?
ENST00000354925.6:c.340dup	ENSP00000347004.2:p.Thr114AsnfsTer?
ENST00000355080.9:c.202dup	ENSP00000347192.5:p.Thr68AsnfsTer?
ENST00000394595.7:c.185-2526dup	ENSP00000378095.3:n.185-2526dup
ENST00000394598.6:c.340dup	ENSP00000378097.2:p.Thr114AsnfsTer?
ENST00000511837.5:c.340dup	ENSP00000421454.1:p.Thr114AsnfsTer?
ENST00000511990.1:c.202dup	ENSP00000424142.1:p.Thr68AsnfsTer?
ENST00000557119.2:c.361dup	ENSP00000475617.1:p.Thr121AsnfsTer?
ENST00000613094.4:c.340dup	ENSP00000484763.1:p.Thr114AsnfsTer?
ENST00000614423.4:c.340dup	ENSP00000481951.1:p.Thr114AsnfsTer?
ENST00000616641.4:c.202dup	ENSP00000484909.1:p.Thr68AsnfsTer?
NM_000325.5:c.361dup	NP_000316.2:p.Thr121AsnfsTer?
NM_001204397.1:c.340dup	NP_001191326.1:p.Thr114AsnfsTer?
NM_001204398.1:c.340dup	NP_001191327.1:p.Thr114AsnfsTer?
NM_001204399.1:c.202dup	NP_001191328.1:p.Thr68AsnfsTer?
NM_153426.2:c.340dup	NP_700475.1:p.Thr114AsnfsTer?
NM_153427.2:c.202dup	NP_700476.1:p.Thr68AsnfsTer?
XM_006714235.2:c.340dup	XP_006714298.1:p.Thr114AsnfsTer?
XM_011532027.1:c.202dup	XP_011530329.1:p.Thr68AsnfsTer?
XM_024454090.1:c.7dup	XP_024309858.1:p.Thr3AsnfsTer?
NM_000325.6:c.361dup MANE Select	NP_000316.2:p.Thr121AsnfsTer?
NM_001204397.2:c.340dup	NP_001191326.1:p.Thr114AsnfsTer?
NM_153426.3:c.340dup	NP_700475.1:p.Thr114AsnfsTer?
NM_153427.3:c.202dup	NP_700476.1:p.Thr68AsnfsTer?