Canonical Allele Identifier: CA3045431

Gene: PITX2

Linked Data

• dbSNP Id: rs755635155
• ExAC: 4:111539477 A / G
• gnomAD v2: 4-111539477-A-G
• gnomAD v4: 4-110618321-A-G
• MyVariant Identifiers: chr4:g.111539477A>G (hg19) ; chr4:g.110618321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618321A>G , CM000666.2:g.110618321A>G	GRCh38
NC_000004.11:g.111539477A>G , CM000666.1:g.111539477A>G	GRCh37
NC_000004.10:g.111758926A>G	NCBI36
NG_007120.1:g.24032T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*27T>C	ENSP00000484763.2:n.*27T>C
ENST00000614423.5:c.677T>C	ENSP00000481951.2:p.Leu226Pro
ENST00000616641.5:n.745T>C
ENST00000644488.2:n.749T>C
ENST00000394595.8:c.758T>C	ENSP00000378095.4:p.Leu253Pro
ENST00000644488.1:n.821T>C
ENST00000644743.1:c.779T>C MANE Select	ENSP00000495061.1:p.Leu260Pro
ENST00000645131.1:n.710T>C
ENST00000306732.7:c.779T>C	ENSP00000304169.3:p.Leu260Pro
ENST00000354925.6:c.758T>C	ENSP00000347004.2:p.Leu253Pro
ENST00000355080.9:c.620T>C	ENSP00000347192.5:p.Leu207Pro
ENST00000394595.7:c.*27T>C	ENSP00000378095.3:n.*27T>C
ENST00000394598.6:c.758T>C	ENSP00000378097.2:p.Leu253Pro
ENST00000511837.5:c.758T>C	ENSP00000421454.1:p.Leu253Pro
ENST00000607868.1:n.506T>C
ENST00000613094.4:c.758T>C	ENSP00000484763.1:p.Leu253Pro
ENST00000614423.4:c.758T>C	ENSP00000481951.1:p.Leu253Pro
ENST00000616641.4:c.620T>C	ENSP00000484909.1:p.Leu207Pro
NM_000325.5:c.779T>C	NP_000316.2:p.Leu260Pro
NM_001204397.1:c.758T>C	NP_001191326.1:p.Leu253Pro
NM_001204398.1:c.758T>C	NP_001191327.1:p.Leu253Pro
NM_001204399.1:c.620T>C	NP_001191328.1:p.Leu207Pro
NM_153426.2:c.758T>C	NP_700475.1:p.Leu253Pro
NM_153427.2:c.620T>C	NP_700476.1:p.Leu207Pro
XM_006714235.2:c.758T>C	XP_006714298.1:p.Leu253Pro
XM_011532027.1:c.620T>C	XP_011530329.1:p.Leu207Pro
XM_024454090.1:c.425T>C	XP_024309858.1:p.Leu142Pro
NM_000325.6:c.779T>C MANE Select	NP_000316.2:p.Leu260Pro
NM_001204397.2:c.758T>C	NP_001191326.1:p.Leu253Pro
NM_153426.3:c.758T>C	NP_700475.1:p.Leu253Pro
NM_153427.3:c.620T>C	NP_700476.1:p.Leu207Pro