Canonical Allele Identifier: CA119299
Gene: PITX2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8094
ClinVar RCV Id: RCV000008562
dbSNP Id: rs104893862

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621231C>T , CM000666.2:g.110621231C>T GRCh38
NC_000004.11:g.111542387C>T , CM000666.1:g.111542387C>T GRCh37
NC_000004.10:g.111761836C>T NCBI36
NG_007120.1:g.21122G>A

Transcript Alleles

HGVS Amino-acid change
NM_000325.5:c.344G>A VV NP_000316.2:p.Arg115His
NM_001204397.1:c.323G>A VV NP_001191326.1:p.Arg108His
NM_001204398.1:c.323G>A VV NP_001191327.1:p.Arg108His
NM_001204399.1:c.185G>A VV NP_001191328.1:p.Arg62His
NM_153426.2:c.323G>A VV NP_700475.1:p.Arg108His
NM_153427.2:c.185G>A VV NP_700476.1:p.Arg62His
XM_006714235.2:c.323G>A XP_006714298.1:p.Arg108His
XM_011532027.1:c.185G>A XP_011530329.1:p.Arg62His
XM_024454090.1:c.-11G>A XP_024309858.1:p.=
ENST00000306732.7:c.344G>A ENSP00000304169.3:p.Arg115His
ENST00000354925.6:c.323G>A ENSP00000347004.2:p.Arg108His
ENST00000355080.9:c.185G>A ENSP00000347192.5:p.Arg62His
ENST00000394595.7:c.185-2543G>A ENSP00000378095.3:p.=
ENST00000394598.6:c.323G>A ENSP00000378097.2:p.Arg108His
ENST00000511837.5:c.323G>A ENSP00000421454.1:p.Arg108His
ENST00000511990.1:c.185G>A ENSP00000424142.1:p.Arg62His
ENST00000557119.2:c.344G>A ENSP00000475617.1:p.Arg115His
ENST00000613094.4:c.323G>A ENSP00000484763.1:p.Arg108His
ENST00000614423.4:c.323G>A ENSP00000481951.1:p.Arg108His
ENST00000616641.4:c.185G>A ENSP00000484909.1:p.Arg62His