Canonical Allele Identifier: CA357985420

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621192C>T , CM000666.2:g.110621192C>T	GRCh38
NC_000004.11:g.111542348C>T , CM000666.1:g.111542348C>T	GRCh37
NC_000004.10:g.111761797C>T	NCBI36
NG_007120.1:g.21161G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000325.6:c.383G>A MANE Select	NP_000316.2:p.Trp128Ter
ENST00000644743.1:c.383G>A MANE Select	ENSP00000495061.1:p.Trp128Ter
NM_000325.5:c.383G>A	NP_000316.2:p.Trp128Ter
NM_001204397.1:c.362G>A	NP_001191326.1:p.Trp121Ter
NM_001204397.2:c.362G>A	NP_001191326.1:p.Trp121Ter
NM_001204398.1:c.362G>A	NP_001191327.1:p.Trp121Ter
NM_001204399.1:c.224G>A	NP_001191328.1:p.Trp75Ter
NM_153426.2:c.362G>A	NP_700475.1:p.Trp121Ter
NM_153426.3:c.362G>A	NP_700475.1:p.Trp121Ter
NM_153427.2:c.224G>A	NP_700476.1:p.Trp75Ter
NM_153427.3:c.224G>A	NP_700476.1:p.Trp75Ter
ENST00000306732.7:c.383G>A	ENSP00000304169.3:p.Trp128Ter
ENST00000354925.6:c.362G>A	ENSP00000347004.2:p.Trp121Ter
ENST00000355080.9:c.224G>A	ENSP00000347192.5:p.Trp75Ter
ENST00000394595.7:c.185-2504G>A	ENSP00000378095.3:n.185-2504G>A
ENST00000394595.8:c.362G>A	ENSP00000378095.4:p.Trp121Ter
ENST00000394598.6:c.362G>A	ENSP00000378097.2:p.Trp121Ter
ENST00000511837.5:c.362G>A	ENSP00000421454.1:p.Trp121Ter
ENST00000511990.1:c.224G>A	ENSP00000424142.1:p.Trp75Ter
ENST00000557119.2:c.383G>A	ENSP00000475617.1:p.Trp128Ter
ENST00000613094.4:c.362G>A	ENSP00000484763.1:p.Trp121Ter
ENST00000613094.5:c.185-2504G>A	ENSP00000484763.2:n.185-2504G>A
ENST00000614423.4:c.362G>A	ENSP00000481951.1:p.Trp121Ter
ENST00000614423.5:c.281G>A	ENSP00000481951.2:p.Trp94Ter
ENST00000616641.4:c.224G>A	ENSP00000484909.1:p.Trp75Ter
ENST00000616641.5:n.349G>A
ENST00000644488.1:n.425G>A
ENST00000644488.2:n.353G>A
ENST00000645131.1:n.314G>A
XM_006714235.2:c.362G>A	XP_006714298.1:p.Trp121Ter
XM_011532027.1:c.224G>A	XP_011530329.1:p.Trp75Ter
XM_024454090.1:c.29G>A	XP_024309858.1:p.Trp10Ter