Canonical Allele Identifier: CA104048854

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110637199G>C , CM000666.2:g.110637199G>C	GRCh38
NC_000004.11:g.111558355G>C , CM000666.1:g.111558355G>C	GRCh37
NC_000004.10:g.111777804G>C	NCBI36
NG_007120.1:g.5154C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001204397.1:c.-663C>G	NP_001191326.1:n.-663C>G
NM_001204398.1:c.-10-4191C>G	NP_001191327.1:n.-10-4191C>G
NM_001204399.1:c.-10-4191C>G	NP_001191328.1:n.-10-4191C>G
NM_153426.2:c.-429C>G	NP_700475.1:n.-429C>G
NM_153427.2:c.-429C>G	NP_700476.1:n.-429C>G
ENST00000354925.6:c.-663C>G	ENSP00000347004.2:n.-663C>G
ENST00000355080.9:c.-429C>G	ENSP00000347192.5:n.-429C>G
ENST00000511837.5:c.-10-4191C>G	ENSP00000421454.1:n.-10-4191C>G
ENST00000511990.1:c.-10-4191C>G	ENSP00000424142.1:n.-10-4191C>G
ENST00000613094.4:c.-429C>G	ENSP00000484763.1:n.-429C>G
ENST00000614423.4:c.-10-4191C>G	ENSP00000481951.1:n.-10-4191C>G
ENST00000616641.4:c.-429C>G	ENSP00000484909.1:n.-429C>G
XM_011532027.1:c.-429C>G	XP_011530329.1:n.-429C>G