Canonical Allele Identifier: CA104048956

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110637563G>T , CM000666.2:g.110637563G>T	GRCh38
NC_000004.11:g.111558719G>T , CM000666.1:g.111558719G>T	GRCh37
NC_000004.10:g.111778168G>T	NCBI36
NG_007120.1:g.4790C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001204397.1:c.-1027C>A	NP_001191326.1:n.-1027C>A
NM_001204398.1:c.-11+4356C>A	NP_001191327.1:n.-11+4356C>A
NM_001204399.1:c.-11+4356C>A	NP_001191328.1:n.-11+4356C>A
NM_153426.2:c.-793C>A	NP_700475.1:n.-793C>A
NM_153427.2:c.-793C>A	NP_700476.1:n.-793C>A
ENST00000354925.6:c.-1027C>A	ENSP00000347004.2:n.-1027C>A
ENST00000511837.5:c.-11+4356C>A	ENSP00000421454.1:n.-11+4356C>A
ENST00000511990.1:c.-11+4356C>A	ENSP00000424142.1:n.-11+4356C>A
ENST00000613094.4:c.-793C>A	ENSP00000484763.1:n.-793C>A
ENST00000614423.4:c.-11+4356C>A	ENSP00000481951.1:n.-11+4356C>A
ENST00000616641.4:c.-793C>A	ENSP00000484909.1:n.-793C>A
XM_011532027.1:c.-793C>A	XP_011530329.1:n.-793C>A