Canonical Allele Identifier: CA1485137005

Gene: PITX2

Linked Data

• dbSNP Id: rs1728810934

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617608A>G , CM000666.2:g.110617608A>G	GRCh38
NC_000004.11:g.111538764A>G , CM000666.1:g.111538764A>G	GRCh37
NC_000004.10:g.111758213A>G	NCBI36
NG_007120.1:g.24745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*740T>C	ENSP00000484763.2:n.*740T>C
ENST00000614423.5:c.*517T>C	ENSP00000481951.2:n.*517T>C
ENST00000394595.8:c.*517T>C	ENSP00000378095.4:n.*517T>C
ENST00000644488.1:n.1534T>C
ENST00000644743.1:c.*517T>C MANE Select	ENSP00000495061.1:n.*517T>C
ENST00000645131.1:n.1423T>C
ENST00000306732.7:c.*517T>C	ENSP00000304169.3:n.*517T>C
ENST00000354925.6:c.*517T>C	ENSP00000347004.2:n.*517T>C
ENST00000355080.9:c.*517T>C	ENSP00000347192.5:n.*517T>C
ENST00000394595.7:c.*740T>C	ENSP00000378095.3:n.*740T>C
ENST00000394598.6:c.*517T>C	ENSP00000378097.2:n.*517T>C
ENST00000607868.1:n.1219T>C
ENST00000613094.4:c.*517T>C	ENSP00000484763.1:n.*517T>C
ENST00000614423.4:c.*517T>C	ENSP00000481951.1:n.*517T>C
ENST00000616641.4:c.*517T>C	ENSP00000484909.1:n.*517T>C
NM_000325.5:c.*517T>C	NP_000316.2:n.*517T>C
NM_001204397.1:c.*517T>C	NP_001191326.1:n.*517T>C
NM_001204398.1:c.*517T>C	NP_001191327.1:n.*517T>C
NM_001204399.1:c.*517T>C	NP_001191328.1:n.*517T>C
NM_153426.2:c.*517T>C	NP_700475.1:n.*517T>C
NM_153427.2:c.*517T>C	NP_700476.1:n.*517T>C
XM_006714235.2:c.*517T>C	XP_006714298.1:n.*517T>C
XM_011532027.1:c.*517T>C	XP_011530329.1:n.*517T>C
XM_024454090.1:c.*517T>C	XP_024309858.1:n.*517T>C
NM_000325.6:c.*517T>C MANE Select	NP_000316.2:n.*517T>C
NM_001204397.2:c.*517T>C	NP_001191326.1:n.*517T>C
NM_153426.3:c.*517T>C	NP_700475.1:n.*517T>C
NM_153427.3:c.*517T>C	NP_700476.1:n.*517T>C