Canonical Allele Identifier: CA2671769247

Gene: PITX2

Linked Data

• gnomAD v4: 4-110617948-A-ATCCCTTTGAAATCAAAGGAGCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617951_110617973dup , CM000666.2:g.110617951_110617973dup	GRCh38
NC_000004.11:g.111539107_111539129dup , CM000666.1:g.111539107_111539129dup	GRCh37
NC_000004.10:g.111758556_111758578dup	NCBI36
NG_007120.1:g.24382_24404dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*377_*399dup	ENSP00000484763.2:n.*377_*399dup
ENST00000614423.5:c.*154_*176dup	ENSP00000481951.2:n.*154_*176dup
ENST00000616641.5:n.1095_1117dup
ENST00000644488.2:n.1099_1121dup
ENST00000394595.8:c.*154_*176dup	ENSP00000378095.4:n.*154_*176dup
ENST00000644488.1:n.1171_1193dup
ENST00000644743.1:c.*154_*176dup MANE Select	ENSP00000495061.1:n.*154_*176dup
ENST00000645131.1:n.1060_1082dup
ENST00000306732.7:c.*154_*176dup	ENSP00000304169.3:n.*154_*176dup
ENST00000354925.6:c.*154_*176dup	ENSP00000347004.2:n.*154_*176dup
ENST00000355080.9:c.*154_*176dup	ENSP00000347192.5:n.*154_*176dup
ENST00000394595.7:c.*377_*399dup	ENSP00000378095.3:n.*377_*399dup
ENST00000394598.6:c.*154_*176dup	ENSP00000378097.2:n.*154_*176dup
ENST00000607868.1:n.856_878dup
ENST00000613094.4:c.*154_*176dup	ENSP00000484763.1:n.*154_*176dup
ENST00000614423.4:c.*154_*176dup	ENSP00000481951.1:n.*154_*176dup
ENST00000616641.4:c.*154_*176dup	ENSP00000484909.1:n.*154_*176dup
NM_000325.5:c.*154_*176dup	NP_000316.2:n.*154_*176dup
NM_001204397.1:c.*154_*176dup	NP_001191326.1:n.*154_*176dup
NM_001204398.1:c.*154_*176dup	NP_001191327.1:n.*154_*176dup
NM_001204399.1:c.*154_*176dup	NP_001191328.1:n.*154_*176dup
NM_153426.2:c.*154_*176dup	NP_700475.1:n.*154_*176dup
NM_153427.2:c.*154_*176dup	NP_700476.1:n.*154_*176dup
XM_006714235.2:c.*154_*176dup	XP_006714298.1:n.*154_*176dup
XM_011532027.1:c.*154_*176dup	XP_011530329.1:n.*154_*176dup
XM_024454090.1:c.*154_*176dup	XP_024309858.1:n.*154_*176dup
NM_000325.6:c.*154_*176dup MANE Select	NP_000316.2:n.*154_*176dup
NM_001204397.2:c.*154_*176dup	NP_001191326.1:n.*154_*176dup
NM_153426.3:c.*154_*176dup	NP_700475.1:n.*154_*176dup
NM_153427.3:c.*154_*176dup	NP_700476.1:n.*154_*176dup