Canonical Allele Identifier: CA357985697

Gene: PITX2

Linked Data

• gnomAD v4: 4-110621315-G-A
• MyVariant Identifiers: chr4:g.111542471G>A (hg19) ; chr4:g.110621315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621315G>A , CM000666.2:g.110621315G>A	GRCh38
NC_000004.11:g.111542471G>A , CM000666.1:g.111542471G>A	GRCh37
NC_000004.10:g.111761920G>A	NCBI36
NG_007120.1:g.21038C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2627C>T	ENSP00000484763.2:n.185-2627C>T
ENST00000614423.5:c.158C>T	ENSP00000481951.2:p.Ser53Phe
ENST00000616641.5:n.226C>T
ENST00000644488.2:n.230C>T
ENST00000394595.8:c.239C>T	ENSP00000378095.4:p.Ser80Phe
ENST00000644488.1:n.302C>T
ENST00000644743.1:c.260C>T MANE Select	ENSP00000495061.1:p.Ser87Phe
ENST00000645131.1:n.191C>T
ENST00000306732.7:c.260C>T	ENSP00000304169.3:p.Ser87Phe
ENST00000354925.6:c.239C>T	ENSP00000347004.2:p.Ser80Phe
ENST00000355080.9:c.101C>T	ENSP00000347192.5:p.Ser34Phe
ENST00000394595.7:c.185-2627C>T	ENSP00000378095.3:n.185-2627C>T
ENST00000394598.6:c.239C>T	ENSP00000378097.2:p.Ser80Phe
ENST00000511837.5:c.239C>T	ENSP00000421454.1:p.Ser80Phe
ENST00000511990.1:c.101C>T	ENSP00000424142.1:p.Ser34Phe
ENST00000557119.2:c.260C>T	ENSP00000475617.1:p.Ser87Phe
ENST00000613094.4:c.239C>T	ENSP00000484763.1:p.Ser80Phe
ENST00000614423.4:c.239C>T	ENSP00000481951.1:p.Ser80Phe
ENST00000616641.4:c.101C>T	ENSP00000484909.1:p.Ser34Phe
NM_000325.5:c.260C>T	NP_000316.2:p.Ser87Phe
NM_001204397.1:c.239C>T	NP_001191326.1:p.Ser80Phe
NM_001204398.1:c.239C>T	NP_001191327.1:p.Ser80Phe
NM_001204399.1:c.101C>T	NP_001191328.1:p.Ser34Phe
NM_153426.2:c.239C>T	NP_700475.1:p.Ser80Phe
NM_153427.2:c.101C>T	NP_700476.1:p.Ser34Phe
XM_006714235.2:c.239C>T	XP_006714298.1:p.Ser80Phe
XM_011532027.1:c.101C>T	XP_011530329.1:p.Ser34Phe
XM_024454090.1:c.-95C>T	XP_024309858.1:n.-95C>T
NM_000325.6:c.260C>T MANE Select	NP_000316.2:p.Ser87Phe
NM_001204397.2:c.239C>T	NP_001191326.1:p.Ser80Phe
NM_153426.3:c.239C>T	NP_700475.1:p.Ser80Phe
NM_153427.3:c.101C>T	NP_700476.1:p.Ser34Phe