Canonical Allele Identifier: CA3045470

Gene: PITX2

Linked Data

• dbSNP Id: rs527498517
• ExAC: 4:111539721 G / A
• gnomAD v2: 4-111539721-G-A
• gnomAD v3: 4-110618565-G-A
• gnomAD v4: 4-110618565-G-A
• MyVariant Identifiers: chr4:g.111539721G>A (hg19) ; chr4:g.110618565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618565G>A , CM000666.2:g.110618565G>A	GRCh38
NC_000004.11:g.111539721G>A , CM000666.1:g.111539721G>A	GRCh37
NC_000004.10:g.111759170G>A	NCBI36
NG_007120.1:g.23788C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.308C>T	ENSP00000484763.2:p.Pro103Leu
ENST00000614423.5:c.433C>T	ENSP00000481951.2:p.Pro145Ser
ENST00000616641.5:n.501C>T
ENST00000644488.2:n.505C>T
ENST00000394595.8:c.514C>T	ENSP00000378095.4:p.Pro172Ser
ENST00000644488.1:n.577C>T
ENST00000644743.1:c.535C>T MANE Select	ENSP00000495061.1:p.Pro179Ser
ENST00000645131.1:n.466C>T
ENST00000306732.7:c.535C>T	ENSP00000304169.3:p.Pro179Ser
ENST00000354925.6:c.514C>T	ENSP00000347004.2:p.Pro172Ser
ENST00000355080.9:c.376C>T	ENSP00000347192.5:p.Pro126Ser
ENST00000394595.7:c.308C>T	ENSP00000378095.3:p.Pro103Leu
ENST00000394598.6:c.514C>T	ENSP00000378097.2:p.Pro172Ser
ENST00000511837.5:c.514C>T	ENSP00000421454.1:p.Pro172Ser
ENST00000556049.1:n.841C>T
ENST00000607868.1:n.262C>T
ENST00000613094.4:c.514C>T	ENSP00000484763.1:p.Pro172Ser
ENST00000614423.4:c.514C>T	ENSP00000481951.1:p.Pro172Ser
ENST00000616641.4:c.376C>T	ENSP00000484909.1:p.Pro126Ser
NM_000325.5:c.535C>T	NP_000316.2:p.Pro179Ser
NM_001204397.1:c.514C>T	NP_001191326.1:p.Pro172Ser
NM_001204398.1:c.514C>T	NP_001191327.1:p.Pro172Ser
NM_001204399.1:c.376C>T	NP_001191328.1:p.Pro126Ser
NM_153426.2:c.514C>T	NP_700475.1:p.Pro172Ser
NM_153427.2:c.376C>T	NP_700476.1:p.Pro126Ser
XM_006714235.2:c.514C>T	XP_006714298.1:p.Pro172Ser
XM_011532027.1:c.376C>T	XP_011530329.1:p.Pro126Ser
XM_024454090.1:c.181C>T	XP_024309858.1:p.Pro61Ser
NM_000325.6:c.535C>T MANE Select	NP_000316.2:p.Pro179Ser
NM_001204397.2:c.514C>T	NP_001191326.1:p.Pro172Ser
NM_153426.3:c.514C>T	NP_700475.1:p.Pro172Ser
NM_153427.3:c.376C>T	NP_700476.1:p.Pro126Ser