Canonical Allele Identifier: CA104048741

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110636849C>T , CM000666.2:g.110636849C>T	GRCh38
NC_000004.11:g.111558005C>T , CM000666.1:g.111558005C>T	GRCh37
NC_000004.10:g.111777454C>T	NCBI36
NG_007120.1:g.5504G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001204397.1:c.-313G>A	NP_001191326.1:n.-313G>A
NM_001204397.2:c.-313G>A	NP_001191326.1:n.-313G>A
NM_001204398.1:c.-10-3841G>A	NP_001191327.1:n.-10-3841G>A
NM_001204399.1:c.-10-3841G>A	NP_001191328.1:n.-10-3841G>A
NM_153426.2:c.-79G>A	NP_700475.1:n.-79G>A
NM_153426.3:c.-79G>A	NP_700475.1:n.-79G>A
NM_153427.2:c.-79G>A	NP_700476.1:n.-79G>A
NM_153427.3:c.-79G>A	NP_700476.1:n.-79G>A
ENST00000354925.6:c.-313G>A	ENSP00000347004.2:n.-313G>A
ENST00000355080.9:c.-79G>A	ENSP00000347192.5:n.-79G>A
ENST00000394595.7:c.-79G>A	ENSP00000378095.3:n.-79G>A
ENST00000394595.8:c.-79G>A	ENSP00000378095.4:n.-79G>A
ENST00000394598.6:c.-79G>A	ENSP00000378097.2:n.-79G>A
ENST00000511837.5:c.-10-3841G>A	ENSP00000421454.1:n.-10-3841G>A
ENST00000511990.1:c.-10-3841G>A	ENSP00000424142.1:n.-10-3841G>A
ENST00000613094.4:c.-79G>A	ENSP00000484763.1:n.-79G>A
ENST00000613094.5:c.-79G>A	ENSP00000484763.2:n.-79G>A
ENST00000614423.4:c.-10-3841G>A	ENSP00000481951.1:n.-10-3841G>A
ENST00000616641.4:c.-79G>A	ENSP00000484909.1:n.-79G>A
XM_011532027.1:c.-79G>A	XP_011530329.1:n.-79G>A