Canonical Allele Identifier: CA440822269

Gene: PITX2

Linked Data

• dbSNP Id: rs752099801
• MyVariant Identifiers: chr4:g.111539476C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618320C>A , CM000666.2:g.110618320C>A	GRCh38
NC_000004.11:g.111539476C>A , CM000666.1:g.111539476C>A	GRCh37
NC_000004.10:g.111758925C>A	NCBI36
NG_007120.1:g.24033G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*28G>T	ENSP00000484763.2:n.*28G>T
ENST00000614423.5:c.678G>T	ENSP00000481951.2:p.Leu226=
ENST00000616641.5:n.746G>T
ENST00000644488.2:n.750G>T
ENST00000394595.8:c.759G>T	ENSP00000378095.4:p.Leu253=
ENST00000644488.1:n.822G>T
ENST00000644743.1:c.780G>T MANE Select	ENSP00000495061.1:p.Leu260=
ENST00000645131.1:n.711G>T
ENST00000306732.7:c.780G>T	ENSP00000304169.3:p.Leu260=
ENST00000354925.6:c.759G>T	ENSP00000347004.2:p.Leu253=
ENST00000355080.9:c.621G>T	ENSP00000347192.5:p.Leu207=
ENST00000394595.7:c.*28G>T	ENSP00000378095.3:n.*28G>T
ENST00000394598.6:c.759G>T	ENSP00000378097.2:p.Leu253=
ENST00000511837.5:c.759G>T	ENSP00000421454.1:p.Leu253=
ENST00000607868.1:n.507G>T
ENST00000613094.4:c.759G>T	ENSP00000484763.1:p.Leu253=
ENST00000614423.4:c.759G>T	ENSP00000481951.1:p.Leu253=
ENST00000616641.4:c.621G>T	ENSP00000484909.1:p.Leu207=
NM_000325.5:c.780G>T	NP_000316.2:p.Leu260=
NM_001204397.1:c.759G>T	NP_001191326.1:p.Leu253=
NM_001204398.1:c.759G>T	NP_001191327.1:p.Leu253=
NM_001204399.1:c.621G>T	NP_001191328.1:p.Leu207=
NM_153426.2:c.759G>T	NP_700475.1:p.Leu253=
NM_153427.2:c.621G>T	NP_700476.1:p.Leu207=
XM_006714235.2:c.759G>T	XP_006714298.1:p.Leu253=
XM_011532027.1:c.621G>T	XP_011530329.1:p.Leu207=
XM_024454090.1:c.426G>T	XP_024309858.1:p.Leu142=
NM_000325.6:c.780G>T MANE Select	NP_000316.2:p.Leu260=
NM_001204397.2:c.759G>T	NP_001191326.1:p.Leu253=
NM_153426.3:c.759G>T	NP_700475.1:p.Leu253=
NM_153427.3:c.621G>T	NP_700476.1:p.Leu207=