Canonical Allele Identifier: CA1485137130

Gene: PITX2

Linked Data

• dbSNP Id: rs527607188
• gnomAD v4: 4-110617874-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617874C>T , CM000666.2:g.110617874C>T	GRCh38
NC_000004.11:g.111539030C>T , CM000666.1:g.111539030C>T	GRCh37
NC_000004.10:g.111758479C>T	NCBI36
NG_007120.1:g.24479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*474G>A	ENSP00000484763.2:n.*474G>A
ENST00000614423.5:c.*251G>A	ENSP00000481951.2:n.*251G>A
ENST00000394595.8:c.*251G>A	ENSP00000378095.4:n.*251G>A
ENST00000644488.1:n.1268G>A
ENST00000644743.1:c.*251G>A MANE Select	ENSP00000495061.1:n.*251G>A
ENST00000645131.1:n.1157G>A
ENST00000306732.7:c.*251G>A	ENSP00000304169.3:n.*251G>A
ENST00000354925.6:c.*251G>A	ENSP00000347004.2:n.*251G>A
ENST00000355080.9:c.*251G>A	ENSP00000347192.5:n.*251G>A
ENST00000394595.7:c.*474G>A	ENSP00000378095.3:n.*474G>A
ENST00000394598.6:c.*251G>A	ENSP00000378097.2:n.*251G>A
ENST00000607868.1:n.953G>A
ENST00000613094.4:c.*251G>A	ENSP00000484763.1:n.*251G>A
ENST00000614423.4:c.*251G>A	ENSP00000481951.1:n.*251G>A
ENST00000616641.4:c.*251G>A	ENSP00000484909.1:n.*251G>A
NM_000325.5:c.*251G>A	NP_000316.2:n.*251G>A
NM_001204397.1:c.*251G>A	NP_001191326.1:n.*251G>A
NM_001204398.1:c.*251G>A	NP_001191327.1:n.*251G>A
NM_001204399.1:c.*251G>A	NP_001191328.1:n.*251G>A
NM_153426.2:c.*251G>A	NP_700475.1:n.*251G>A
NM_153427.2:c.*251G>A	NP_700476.1:n.*251G>A
XM_006714235.2:c.*251G>A	XP_006714298.1:n.*251G>A
XM_011532027.1:c.*251G>A	XP_011530329.1:n.*251G>A
XM_024454090.1:c.*251G>A	XP_024309858.1:n.*251G>A
NM_000325.6:c.*251G>A MANE Select	NP_000316.2:n.*251G>A
NM_001204397.2:c.*251G>A	NP_001191326.1:n.*251G>A
NM_153426.3:c.*251G>A	NP_700475.1:n.*251G>A
NM_153427.3:c.*251G>A	NP_700476.1:n.*251G>A