Canonical Allele Identifier: CA357984500

Gene: PITX2

Linked Data

• MyVariant Identifiers: chr4:g.111539829G>C (hg19) ; chr4:g.110618673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618673G>C , CM000666.2:g.110618673G>C	GRCh38
NC_000004.11:g.111539829G>C , CM000666.1:g.111539829G>C	GRCh37
NC_000004.10:g.111759278G>C	NCBI36
NG_007120.1:g.23680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.200C>G	ENSP00000484763.2:p.Ser67Trp
ENST00000614423.5:c.325C>G	ENSP00000481951.2:p.Arg109Gly
ENST00000616641.5:n.393C>G
ENST00000644488.2:n.397C>G
ENST00000394595.8:c.406C>G	ENSP00000378095.4:p.Arg136Gly
ENST00000644488.1:n.469C>G
ENST00000644743.1:c.427C>G MANE Select	ENSP00000495061.1:p.Arg143Gly
ENST00000645131.1:n.358C>G
ENST00000306732.7:c.427C>G	ENSP00000304169.3:p.Arg143Gly
ENST00000354925.6:c.406C>G	ENSP00000347004.2:p.Arg136Gly
ENST00000355080.9:c.268C>G	ENSP00000347192.5:p.Arg90Gly
ENST00000394595.7:c.200C>G	ENSP00000378095.3:p.Ser67Trp
ENST00000394598.6:c.406C>G	ENSP00000378097.2:p.Arg136Gly
ENST00000511837.5:c.406C>G	ENSP00000421454.1:p.Arg136Gly
ENST00000511990.1:c.268C>G	ENSP00000424142.1:p.Arg90Gly
ENST00000556049.1:n.733C>G
ENST00000607868.1:n.154C>G
ENST00000613094.4:c.406C>G	ENSP00000484763.1:p.Arg136Gly
ENST00000614423.4:c.406C>G	ENSP00000481951.1:p.Arg136Gly
ENST00000616641.4:c.268C>G	ENSP00000484909.1:p.Arg90Gly
NM_000325.5:c.427C>G	NP_000316.2:p.Arg143Gly
NM_001204397.1:c.406C>G	NP_001191326.1:p.Arg136Gly
NM_001204398.1:c.406C>G	NP_001191327.1:p.Arg136Gly
NM_001204399.1:c.268C>G	NP_001191328.1:p.Arg90Gly
NM_153426.2:c.406C>G	NP_700475.1:p.Arg136Gly
NM_153427.2:c.268C>G	NP_700476.1:p.Arg90Gly
XM_006714235.2:c.406C>G	XP_006714298.1:p.Arg136Gly
XM_011532027.1:c.268C>G	XP_011530329.1:p.Arg90Gly
XM_024454090.1:c.73C>G	XP_024309858.1:p.Arg25Gly
NM_000325.6:c.427C>G MANE Select	NP_000316.2:p.Arg143Gly
NM_001204397.2:c.406C>G	NP_001191326.1:p.Arg136Gly
NM_153426.3:c.406C>G	NP_700475.1:p.Arg136Gly
NM_153427.3:c.268C>G	NP_700476.1:p.Arg90Gly