Canonical Allele Identifier: CA235501
Gene: PITX2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 183253
dbSNP Id: rs6533526

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110617671G>A , CM000666.2:g.110617671G>A GRCh38
NC_000004.11:g.111538827G>A , CM000666.1:g.111538827G>A GRCh37
NC_000004.10:g.111758276G>A NCBI36
NG_007120.1:g.24682C>T

Transcript Alleles

HGVS Amino-acid change
NM_000325.5:c.*454C>T VV NP_000316.2:p.=
NM_001204397.1:c.*454C>T VV NP_001191326.1:p.=
NM_001204398.1:c.*454C>T VV NP_001191327.1:p.=
NM_001204399.1:c.*454C>T VV NP_001191328.1:p.=
NM_153426.2:c.*454C>T VV NP_700475.1:p.=
NM_153427.2:c.*454C>T VV NP_700476.1:p.=
XM_006714235.2:c.*454C>T XP_006714298.1:p.=
XM_011532027.1:c.*454C>T XP_011530329.1:p.=
XM_024454090.1:c.*454C>T XP_024309858.1:p.=
ENST00000306732.7:c.*454C>T ENSP00000304169.3:p.=
ENST00000354925.6:c.*454C>T ENSP00000347004.2:p.=
ENST00000355080.9:c.*454C>T ENSP00000347192.5:p.=
ENST00000394595.7:c.*677C>T ENSP00000378095.3:p.=
ENST00000394598.6:c.*454C>T ENSP00000378097.2:p.=
ENST00000607868.1:n.1156C>T
ENST00000613094.4:c.*454C>T ENSP00000484763.1:p.=
ENST00000614423.4:c.*454C>T ENSP00000481951.1:p.=
ENST00000616641.4:c.*454C>T ENSP00000484909.1:p.=