Canonical Allele Identifier: CA440822421

Gene: PITX2

Linked Data

• gnomAD v4: 4-110621212-T-C
• MyVariant Identifiers: chr4:g.111542368T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621212T>C , CM000666.2:g.110621212T>C	GRCh38
NC_000004.11:g.111542368T>C , CM000666.1:g.111542368T>C	GRCh37
NC_000004.10:g.111761817T>C	NCBI36
NG_007120.1:g.21141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2524A>G	ENSP00000484763.2:n.185-2524A>G
ENST00000614423.5:c.261A>G	ENSP00000481951.2:p.Thr87=
ENST00000616641.5:n.329A>G
ENST00000644488.2:n.333A>G
ENST00000394595.8:c.342A>G	ENSP00000378095.4:p.Thr114=
ENST00000644488.1:n.405A>G
ENST00000644743.1:c.363A>G MANE Select	ENSP00000495061.1:p.Thr121=
ENST00000645131.1:n.294A>G
ENST00000306732.7:c.363A>G	ENSP00000304169.3:p.Thr121=
ENST00000354925.6:c.342A>G	ENSP00000347004.2:p.Thr114=
ENST00000355080.9:c.204A>G	ENSP00000347192.5:p.Thr68=
ENST00000394595.7:c.185-2524A>G	ENSP00000378095.3:n.185-2524A>G
ENST00000394598.6:c.342A>G	ENSP00000378097.2:p.Thr114=
ENST00000511837.5:c.342A>G	ENSP00000421454.1:p.Thr114=
ENST00000511990.1:c.204A>G	ENSP00000424142.1:p.Thr68=
ENST00000557119.2:c.363A>G	ENSP00000475617.1:p.Thr121=
ENST00000613094.4:c.342A>G	ENSP00000484763.1:p.Thr114=
ENST00000614423.4:c.342A>G	ENSP00000481951.1:p.Thr114=
ENST00000616641.4:c.204A>G	ENSP00000484909.1:p.Thr68=
NM_000325.5:c.363A>G	NP_000316.2:p.Thr121=
NM_001204397.1:c.342A>G	NP_001191326.1:p.Thr114=
NM_001204398.1:c.342A>G	NP_001191327.1:p.Thr114=
NM_001204399.1:c.204A>G	NP_001191328.1:p.Thr68=
NM_153426.2:c.342A>G	NP_700475.1:p.Thr114=
NM_153427.2:c.204A>G	NP_700476.1:p.Thr68=
XM_006714235.2:c.342A>G	XP_006714298.1:p.Thr114=
XM_011532027.1:c.204A>G	XP_011530329.1:p.Thr68=
XM_024454090.1:c.9A>G	XP_024309858.1:p.Thr3=
NM_000325.6:c.363A>G MANE Select	NP_000316.2:p.Thr121=
NM_001204397.2:c.342A>G	NP_001191326.1:p.Thr114=
NM_153426.3:c.342A>G	NP_700475.1:p.Thr114=
NM_153427.3:c.204A>G	NP_700476.1:p.Thr68=