Canonical Allele Identifier: CA1485137060

Gene: PITX2

Linked Data

• dbSNP Id: rs1728817089

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617722T>C , CM000666.2:g.110617722T>C	GRCh38
NC_000004.11:g.111538878T>C , CM000666.1:g.111538878T>C	GRCh37
NC_000004.10:g.111758327T>C	NCBI36
NG_007120.1:g.24631A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*626A>G	ENSP00000484763.2:n.*626A>G
ENST00000614423.5:c.*403A>G	ENSP00000481951.2:n.*403A>G
ENST00000394595.8:c.*403A>G	ENSP00000378095.4:n.*403A>G
ENST00000644488.1:n.1420A>G
ENST00000644743.1:c.*403A>G MANE Select	ENSP00000495061.1:n.*403A>G
ENST00000645131.1:n.1309A>G
ENST00000306732.7:c.*403A>G	ENSP00000304169.3:n.*403A>G
ENST00000354925.6:c.*403A>G	ENSP00000347004.2:n.*403A>G
ENST00000355080.9:c.*403A>G	ENSP00000347192.5:n.*403A>G
ENST00000394595.7:c.*626A>G	ENSP00000378095.3:n.*626A>G
ENST00000394598.6:c.*403A>G	ENSP00000378097.2:n.*403A>G
ENST00000607868.1:n.1105A>G
ENST00000613094.4:c.*403A>G	ENSP00000484763.1:n.*403A>G
ENST00000614423.4:c.*403A>G	ENSP00000481951.1:n.*403A>G
ENST00000616641.4:c.*403A>G	ENSP00000484909.1:n.*403A>G
NM_000325.5:c.*403A>G	NP_000316.2:n.*403A>G
NM_001204397.1:c.*403A>G	NP_001191326.1:n.*403A>G
NM_001204398.1:c.*403A>G	NP_001191327.1:n.*403A>G
NM_001204399.1:c.*403A>G	NP_001191328.1:n.*403A>G
NM_153426.2:c.*403A>G	NP_700475.1:n.*403A>G
NM_153427.2:c.*403A>G	NP_700476.1:n.*403A>G
XM_006714235.2:c.*403A>G	XP_006714298.1:n.*403A>G
XM_011532027.1:c.*403A>G	XP_011530329.1:n.*403A>G
XM_024454090.1:c.*403A>G	XP_024309858.1:n.*403A>G
NM_000325.6:c.*403A>G MANE Select	NP_000316.2:n.*403A>G
NM_001204397.2:c.*403A>G	NP_001191326.1:n.*403A>G
NM_153426.3:c.*403A>G	NP_700475.1:n.*403A>G
NM_153427.3:c.*403A>G	NP_700476.1:n.*403A>G