Canonical Allele Identifier: CA357984203

Gene: PITX2

Linked Data

• ClinVar Variation Id: 639456
• ClinVar RCV Id: RCV000792252
• dbSNP Id: rs1578446544
• MyVariant Identifiers: chr4:g.111539722G>C (hg19) ; chr4:g.110618566G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618566G>C , CM000666.2:g.110618566G>C	GRCh38
NC_000004.11:g.111539722G>C , CM000666.1:g.111539722G>C	GRCh37
NC_000004.10:g.111759171G>C	NCBI36
NG_007120.1:g.23787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.307C>G	ENSP00000484763.2:p.Pro103Ala
ENST00000614423.5:c.432C>G	ENSP00000481951.2:p.Tyr144Ter
ENST00000616641.5:n.500C>G
ENST00000644488.2:n.504C>G
ENST00000394595.8:c.513C>G	ENSP00000378095.4:p.Tyr171Ter
ENST00000644488.1:n.576C>G
ENST00000644743.1:c.534C>G MANE Select	ENSP00000495061.1:p.Tyr178Ter
ENST00000645131.1:n.465C>G
ENST00000306732.7:c.534C>G	ENSP00000304169.3:p.Tyr178Ter
ENST00000354925.6:c.513C>G	ENSP00000347004.2:p.Tyr171Ter
ENST00000355080.9:c.375C>G	ENSP00000347192.5:p.Tyr125Ter
ENST00000394595.7:c.307C>G	ENSP00000378095.3:p.Pro103Ala
ENST00000394598.6:c.513C>G	ENSP00000378097.2:p.Tyr171Ter
ENST00000511837.5:c.513C>G	ENSP00000421454.1:p.Tyr171Ter
ENST00000556049.1:n.840C>G
ENST00000607868.1:n.261C>G
ENST00000613094.4:c.513C>G	ENSP00000484763.1:p.Tyr171Ter
ENST00000614423.4:c.513C>G	ENSP00000481951.1:p.Tyr171Ter
ENST00000616641.4:c.375C>G	ENSP00000484909.1:p.Tyr125Ter
NM_000325.5:c.534C>G	NP_000316.2:p.Tyr178Ter
NM_001204397.1:c.513C>G	NP_001191326.1:p.Tyr171Ter
NM_001204398.1:c.513C>G	NP_001191327.1:p.Tyr171Ter
NM_001204399.1:c.375C>G	NP_001191328.1:p.Tyr125Ter
NM_153426.2:c.513C>G	NP_700475.1:p.Tyr171Ter
NM_153427.2:c.375C>G	NP_700476.1:p.Tyr125Ter
XM_006714235.2:c.513C>G	XP_006714298.1:p.Tyr171Ter
XM_011532027.1:c.375C>G	XP_011530329.1:p.Tyr125Ter
XM_024454090.1:c.180C>G	XP_024309858.1:p.Tyr60Ter
NM_000325.6:c.534C>G MANE Select	NP_000316.2:p.Tyr178Ter
NM_001204397.2:c.513C>G	NP_001191326.1:p.Tyr171Ter
NM_153426.3:c.513C>G	NP_700475.1:p.Tyr171Ter
NM_153427.3:c.375C>G	NP_700476.1:p.Tyr125Ter