Canonical Allele Identifier: CA104048781

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110636981C>T , CM000666.2:g.110636981C>T	GRCh38
NC_000004.11:g.111558137C>T , CM000666.1:g.111558137C>T	GRCh37
NC_000004.10:g.111777586C>T	NCBI36
NG_007120.1:g.5372G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001204397.1:c.-445G>A	NP_001191326.1:n.-445G>A
NM_001204397.2:c.-445G>A	NP_001191326.1:n.-445G>A
NM_001204398.1:c.-10-3973G>A	NP_001191327.1:n.-10-3973G>A
NM_001204399.1:c.-10-3973G>A	NP_001191328.1:n.-10-3973G>A
NM_153426.2:c.-211G>A	NP_700475.1:n.-211G>A
NM_153426.3:c.-211G>A	NP_700475.1:n.-211G>A
NM_153427.2:c.-211G>A	NP_700476.1:n.-211G>A
NM_153427.3:c.-211G>A	NP_700476.1:n.-211G>A
ENST00000354925.6:c.-445G>A	ENSP00000347004.2:n.-445G>A
ENST00000355080.9:c.-211G>A	ENSP00000347192.5:n.-211G>A
ENST00000394595.7:c.-211G>A	ENSP00000378095.3:n.-211G>A
ENST00000394595.8:c.-211G>A	ENSP00000378095.4:n.-211G>A
ENST00000394598.6:c.-211G>A	ENSP00000378097.2:n.-211G>A
ENST00000511837.5:c.-10-3973G>A	ENSP00000421454.1:n.-10-3973G>A
ENST00000511990.1:c.-10-3973G>A	ENSP00000424142.1:n.-10-3973G>A
ENST00000613094.4:c.-211G>A	ENSP00000484763.1:n.-211G>A
ENST00000613094.5:c.-211G>A	ENSP00000484763.2:n.-211G>A
ENST00000614423.4:c.-10-3973G>A	ENSP00000481951.1:n.-10-3973G>A
ENST00000616641.4:c.-211G>A	ENSP00000484909.1:n.-211G>A
XM_011532027.1:c.-211G>A	XP_011530329.1:n.-211G>A