Canonical Allele Identifier: CA1066676416

Gene: PITX2

Linked Data

• dbSNP Id: rs1728979783
• gnomAD v3: 4-110620848-G-GGCAACTGCAAGCCAGGAACACAATGTCCTGTGCAGGGGATT
• gnomAD v4: 4-110620848-G-GGCAACTGCAAGCCAGGAACACAATGTCCTGTGCAGGGGATT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110620851_110620891dup , CM000666.2:g.110620851_110620891dup	GRCh38
NC_000004.11:g.111542007_111542047dup , CM000666.1:g.111542007_111542047dup	GRCh37
NC_000004.10:g.111761456_111761496dup	NCBI36
NG_007120.1:g.21464_21504dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2201_185-2161dup	ENSP00000484763.2:n.185-2201_185-2161dup
ENST00000614423.5:c.309+275_309+315dup	ENSP00000481951.2:n.309+275_309+315dup
ENST00000616641.5:n.377+275_377+315dup
ENST00000644488.2:n.381+275_381+315dup
ENST00000394595.8:c.390+275_390+315dup	ENSP00000378095.4:n.390+275_390+315dup
ENST00000644488.1:n.453+275_453+315dup
ENST00000644743.1:c.411+275_411+315dup MANE Select	ENSP00000495061.1:n.411+275_411+315dup
ENST00000645131.1:n.342+275_342+315dup
ENST00000306732.7:c.411+275_411+315dup	ENSP00000304169.3:n.411+275_411+315dup
ENST00000354925.6:c.390+275_390+315dup	ENSP00000347004.2:n.390+275_390+315dup
ENST00000355080.9:c.252+275_252+315dup	ENSP00000347192.5:n.252+275_252+315dup
ENST00000394595.7:c.185-2201_185-2161dup	ENSP00000378095.3:n.185-2201_185-2161dup
ENST00000394598.6:c.390+275_390+315dup	ENSP00000378097.2:n.390+275_390+315dup
ENST00000511837.5:c.390+275_390+315dup	ENSP00000421454.1:n.390+275_390+315dup
ENST00000511990.1:c.252+275_252+315dup	ENSP00000424142.1:n.252+275_252+315dup
ENST00000557119.2:c.686_726dup	ENSP00000475617.1:p.Gln243AsnfsTer34
ENST00000613094.4:c.390+275_390+315dup	ENSP00000484763.1:n.390+275_390+315dup
ENST00000614423.4:c.390+275_390+315dup	ENSP00000481951.1:n.390+275_390+315dup
ENST00000616641.4:c.252+275_252+315dup	ENSP00000484909.1:n.252+275_252+315dup
NM_000325.5:c.411+275_411+315dup	NP_000316.2:n.411+275_411+315dup
NM_001204397.1:c.390+275_390+315dup	NP_001191326.1:n.390+275_390+315dup
NM_001204398.1:c.390+275_390+315dup	NP_001191327.1:n.390+275_390+315dup
NM_001204399.1:c.252+275_252+315dup	NP_001191328.1:n.252+275_252+315dup
NM_153426.2:c.390+275_390+315dup	NP_700475.1:n.390+275_390+315dup
NM_153427.2:c.252+275_252+315dup	NP_700476.1:n.252+275_252+315dup
XM_006714235.2:c.390+275_390+315dup	XP_006714298.1:n.390+275_390+315dup
XM_011532027.1:c.252+275_252+315dup	XP_011530329.1:n.252+275_252+315dup
XM_024454090.1:c.57+275_57+315dup	XP_024309858.1:n.57+275_57+315dup
NM_000325.6:c.411+275_411+315dup MANE Select	NP_000316.2:n.411+275_411+315dup
NM_001204397.2:c.390+275_390+315dup	NP_001191326.1:n.390+275_390+315dup
NM_153426.3:c.390+275_390+315dup	NP_700475.1:n.390+275_390+315dup
NM_153427.3:c.252+275_252+315dup	NP_700476.1:n.252+275_252+315dup