Canonical Allele Identifier: CA357985369
Gene: PITX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693132
ClinVar RCV Id: RCV002293567

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621169C>A , CM000666.2:g.110621169C>A GRCh38
NC_000004.11:g.111542325C>A , CM000666.1:g.111542325C>A GRCh37
NC_000004.10:g.111761774C>A NCBI36
NG_007120.1:g.21184G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000613094.5:c.185-2481G>T ENSP00000484763.2:n.185-2481G>T
ENST00000614423.5:c.304G>T ENSP00000481951.2:p.Val102Phe
ENST00000616641.5:n.372G>T
ENST00000644488.2:n.376G>T
ENST00000394595.8:c.385G>T ENSP00000378095.4:p.Val129Phe
ENST00000644488.1:n.448G>T
ENST00000644743.1:c.406G>T MANE Select ENSP00000495061.1:p.Val136Phe
ENST00000645131.1:n.337G>T
ENST00000306732.7:c.406G>T ENSP00000304169.3:p.Val136Phe
ENST00000354925.6:c.385G>T ENSP00000347004.2:p.Val129Phe
ENST00000355080.9:c.247G>T ENSP00000347192.5:p.Val83Phe
ENST00000394595.7:c.185-2481G>T ENSP00000378095.3:n.185-2481G>T
ENST00000394598.6:c.385G>T ENSP00000378097.2:p.Val129Phe
ENST00000511837.5:c.385G>T ENSP00000421454.1:p.Val129Phe
ENST00000511990.1:c.247G>T ENSP00000424142.1:p.Val83Phe
ENST00000557119.2:c.406G>T ENSP00000475617.1:p.Val136Phe
ENST00000613094.4:c.385G>T ENSP00000484763.1:p.Val129Phe
ENST00000614423.4:c.385G>T ENSP00000481951.1:p.Val129Phe
ENST00000616641.4:c.247G>T ENSP00000484909.1:p.Val83Phe
NM_000325.5:c.406G>T NP_000316.2:p.Val136Phe
NM_001204397.1:c.385G>T NP_001191326.1:p.Val129Phe
NM_001204398.1:c.385G>T NP_001191327.1:p.Val129Phe
NM_001204399.1:c.247G>T NP_001191328.1:p.Val83Phe
NM_153426.2:c.385G>T NP_700475.1:p.Val129Phe
NM_153427.2:c.247G>T NP_700476.1:p.Val83Phe
XM_006714235.2:c.385G>T XP_006714298.1:p.Val129Phe
XM_011532027.1:c.247G>T XP_011530329.1:p.Val83Phe
XM_024454090.1:c.52G>T XP_024309858.1:p.Val18Phe
NM_000325.6:c.406G>T MANE Select NP_000316.2:p.Val136Phe
NM_001204397.2:c.385G>T NP_001191326.1:p.Val129Phe
NM_153426.3:c.385G>T NP_700475.1:p.Val129Phe
NM_153427.3:c.247G>T NP_700476.1:p.Val83Phe