Canonical Allele Identifier: CA104045055
Gene: PITX2 HGNC NCBI

Linked Data

dbSNP Id: rs28936409

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.110621303C>G , CM000666.2:g.110621303C>G GRCh38
NC_000004.11:g.111542459C>G , CM000666.1:g.111542459C>G GRCh37
NC_000004.10:g.111761908C>G NCBI36
NG_007120.1:g.21050G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000613094.5:c.185-2615G>C ENSP00000484763.2:n.185-2615G>C
ENST00000614423.5:c.170G>C ENSP00000481951.2:p.Arg57Pro
ENST00000616641.5:n.238G>C
ENST00000644488.2:n.242G>C
ENST00000394595.8:c.251G>C ENSP00000378095.4:p.Arg84Pro
ENST00000644488.1:n.314G>C
ENST00000644743.1:c.272G>C MANE Select ENSP00000495061.1:p.Arg91Pro
ENST00000645131.1:n.203G>C
ENST00000306732.7:c.272G>C ENSP00000304169.3:p.Arg91Pro
ENST00000354925.6:c.251G>C ENSP00000347004.2:p.Arg84Pro
ENST00000355080.9:c.113G>C ENSP00000347192.5:p.Arg38Pro
ENST00000394595.7:c.185-2615G>C ENSP00000378095.3:n.185-2615G>C
ENST00000394598.6:c.251G>C ENSP00000378097.2:p.Arg84Pro
ENST00000511837.5:c.251G>C ENSP00000421454.1:p.Arg84Pro
ENST00000511990.1:c.113G>C ENSP00000424142.1:p.Arg38Pro
ENST00000557119.2:c.272G>C ENSP00000475617.1:p.Arg91Pro
ENST00000613094.4:c.251G>C ENSP00000484763.1:p.Arg84Pro
ENST00000614423.4:c.251G>C ENSP00000481951.1:p.Arg84Pro
ENST00000616641.4:c.113G>C ENSP00000484909.1:p.Arg38Pro
NM_000325.5:c.272G>C NP_000316.2:p.Arg91Pro
NM_001204397.1:c.251G>C NP_001191326.1:p.Arg84Pro
NM_001204398.1:c.251G>C NP_001191327.1:p.Arg84Pro
NM_001204399.1:c.113G>C NP_001191328.1:p.Arg38Pro
NM_153426.2:c.251G>C NP_700475.1:p.Arg84Pro
NM_153427.2:c.113G>C NP_700476.1:p.Arg38Pro
XM_006714235.2:c.251G>C XP_006714298.1:p.Arg84Pro
XM_011532027.1:c.113G>C XP_011530329.1:p.Arg38Pro
XM_024454090.1:c.-83G>C XP_024309858.1:n.-83G>C
NM_000325.6:c.272G>C MANE Select NP_000316.2:p.Arg91Pro
NM_001204397.2:c.251G>C NP_001191326.1:p.Arg84Pro
NM_153426.3:c.251G>C NP_700475.1:p.Arg84Pro
NM_153427.3:c.113G>C NP_700476.1:p.Arg38Pro