Canonical Allele Identifier: CA3045473

Gene: PITX2

Linked Data

• dbSNP Id: rs754698054
• ExAC: 4:111539753 T / C
• gnomAD v2: 4-111539753-T-C
• gnomAD v3: 4-110618597-T-C
• gnomAD v4: 4-110618597-T-C
• COSMIC: COSM6043800 ; COSM6043801
• MyVariant Identifiers: chr4:g.111539753T>C (hg19) ; chr4:g.110618597T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618597T>C , CM000666.2:g.110618597T>C	GRCh38
NC_000004.11:g.111539753T>C , CM000666.1:g.111539753T>C	GRCh37
NC_000004.10:g.111759202T>C	NCBI36
NG_007120.1:g.23756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.276A>G	ENSP00000484763.2:p.Gln92=
ENST00000614423.5:c.401A>G	ENSP00000481951.2:p.Asn134Ser
ENST00000616641.5:n.469A>G
ENST00000644488.2:n.473A>G
ENST00000394595.8:c.482A>G	ENSP00000378095.4:p.Asn161Ser
ENST00000644488.1:n.545A>G
ENST00000644743.1:c.503A>G MANE Select	ENSP00000495061.1:p.Asn168Ser
ENST00000645131.1:n.434A>G
ENST00000306732.7:c.503A>G	ENSP00000304169.3:p.Asn168Ser
ENST00000354925.6:c.482A>G	ENSP00000347004.2:p.Asn161Ser
ENST00000355080.9:c.344A>G	ENSP00000347192.5:p.Asn115Ser
ENST00000394595.7:c.276A>G	ENSP00000378095.3:p.Gln92=
ENST00000394598.6:c.482A>G	ENSP00000378097.2:p.Asn161Ser
ENST00000511837.5:c.482A>G	ENSP00000421454.1:p.Asn161Ser
ENST00000511990.1:c.344A>G	ENSP00000424142.1:p.Asn115Ser
ENST00000556049.1:n.809A>G
ENST00000607868.1:n.230A>G
ENST00000613094.4:c.482A>G	ENSP00000484763.1:p.Asn161Ser
ENST00000614423.4:c.482A>G	ENSP00000481951.1:p.Asn161Ser
ENST00000616641.4:c.344A>G	ENSP00000484909.1:p.Asn115Ser
NM_000325.5:c.503A>G	NP_000316.2:p.Asn168Ser
NM_001204397.1:c.482A>G	NP_001191326.1:p.Asn161Ser
NM_001204398.1:c.482A>G	NP_001191327.1:p.Asn161Ser
NM_001204399.1:c.344A>G	NP_001191328.1:p.Asn115Ser
NM_153426.2:c.482A>G	NP_700475.1:p.Asn161Ser
NM_153427.2:c.344A>G	NP_700476.1:p.Asn115Ser
XM_006714235.2:c.482A>G	XP_006714298.1:p.Asn161Ser
XM_011532027.1:c.344A>G	XP_011530329.1:p.Asn115Ser
XM_024454090.1:c.149A>G	XP_024309858.1:p.Asn50Ser
NM_000325.6:c.503A>G MANE Select	NP_000316.2:p.Asn168Ser
NM_001204397.2:c.482A>G	NP_001191326.1:p.Asn161Ser
NM_153426.3:c.482A>G	NP_700475.1:p.Asn161Ser
NM_153427.3:c.344A>G	NP_700476.1:p.Asn115Ser