Canonical Allele Identifier: CA357985768

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111542502T>G (hg19) ; chr4:g.110621346T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621346T>G , CM000666.2:g.110621346T>G	GRCh38
NC_000004.11:g.111542502T>G , CM000666.1:g.111542502T>G	GRCh37
NC_000004.10:g.111761951T>G	NCBI36
NG_007120.1:g.21007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2658A>C	ENSP00000484763.2:n.185-2658A>C
ENST00000614423.5:c.127A>C	ENSP00000481951.2:p.Lys43Gln
ENST00000616641.5:n.195A>C
ENST00000644488.2:n.199A>C
ENST00000394595.8:c.208A>C	ENSP00000378095.4:p.Lys70Gln
ENST00000644488.1:n.271A>C
ENST00000644743.1:c.229A>C MANE Select	ENSP00000495061.1:p.Lys77Gln
ENST00000645131.1:n.160A>C
ENST00000306732.7:c.229A>C	ENSP00000304169.3:p.Lys77Gln
ENST00000354925.6:c.208A>C	ENSP00000347004.2:p.Lys70Gln
ENST00000355080.9:c.70A>C	ENSP00000347192.5:p.Lys24Gln
ENST00000394595.7:c.185-2658A>C	ENSP00000378095.3:n.185-2658A>C
ENST00000394598.6:c.208A>C	ENSP00000378097.2:p.Lys70Gln
ENST00000511837.5:c.208A>C	ENSP00000421454.1:p.Lys70Gln
ENST00000511990.1:c.70A>C	ENSP00000424142.1:p.Lys24Gln
ENST00000557119.2:c.229A>C	ENSP00000475617.1:p.Lys77Gln
ENST00000613094.4:c.208A>C	ENSP00000484763.1:p.Lys70Gln
ENST00000614423.4:c.208A>C	ENSP00000481951.1:p.Lys70Gln
ENST00000616641.4:c.70A>C	ENSP00000484909.1:p.Lys24Gln
NM_000325.5:c.229A>C	NP_000316.2:p.Lys77Gln
NM_001204397.1:c.208A>C	NP_001191326.1:p.Lys70Gln
NM_001204398.1:c.208A>C	NP_001191327.1:p.Lys70Gln
NM_001204399.1:c.70A>C	NP_001191328.1:p.Lys24Gln
NM_153426.2:c.208A>C	NP_700475.1:p.Lys70Gln
NM_153427.2:c.70A>C	NP_700476.1:p.Lys24Gln
XM_006714235.2:c.208A>C	XP_006714298.1:p.Lys70Gln
XM_011532027.1:c.70A>C	XP_011530329.1:p.Lys24Gln
XM_024454090.1:c.-126A>C	XP_024309858.1:n.-126A>C
NM_000325.6:c.229A>C MANE Select	NP_000316.2:p.Lys77Gln
NM_001204397.2:c.208A>C	NP_001191326.1:p.Lys70Gln
NM_153426.3:c.208A>C	NP_700475.1:p.Lys70Gln
NM_153427.3:c.70A>C	NP_700476.1:p.Lys24Gln