Canonical Allele Identifier: CA104049017

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110637737G>A , CM000666.2:g.110637737G>A	GRCh38
NC_000004.11:g.111558893G>A , CM000666.1:g.111558893G>A	GRCh37
NC_000004.10:g.111778342G>A	NCBI36
NG_007120.1:g.4616C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001204397.1:c.-1201C>T	NP_001191326.1:n.-1201C>T
NM_001204398.1:c.-11+4182C>T	NP_001191327.1:n.-11+4182C>T
NM_001204399.1:c.-11+4182C>T	NP_001191328.1:n.-11+4182C>T
NM_153426.2:c.-967C>T	NP_700475.1:n.-967C>T
NM_153427.2:c.-967C>T	NP_700476.1:n.-967C>T
ENST00000354925.6:c.-1201C>T	ENSP00000347004.2:n.-1201C>T
ENST00000511837.5:c.-11+4182C>T	ENSP00000421454.1:n.-11+4182C>T
ENST00000511990.1:c.-11+4182C>T	ENSP00000424142.1:n.-11+4182C>T
ENST00000613094.4:c.-967C>T	ENSP00000484763.1:n.-967C>T
ENST00000614423.4:c.-11+4182C>T	ENSP00000481951.1:n.-11+4182C>T
ENST00000616641.4:c.-967C>T	ENSP00000484909.1:n.-967C>T
XM_011532027.1:c.-967C>T	XP_011530329.1:n.-967C>T