Canonical Allele Identifier: CA104044166

Gene: PITX2

Linked Data

• dbSNP Id: rs1053717575
• gnomAD v4: 4-110617594-A-G
• MyVariant Identifiers: chr4:g.111538750A>G (hg19) ; chr4:g.110617594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110617594A>G , CM000666.2:g.110617594A>G	GRCh38
NC_000004.11:g.111538750A>G , CM000666.1:g.111538750A>G	GRCh37
NC_000004.10:g.111758199A>G	NCBI36
NG_007120.1:g.24759T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*754T>C	ENSP00000484763.2:n.*754T>C
ENST00000614423.5:c.*531T>C	ENSP00000481951.2:n.*531T>C
ENST00000394595.8:c.*531T>C	ENSP00000378095.4:n.*531T>C
ENST00000644488.1:n.1548T>C
ENST00000644743.1:c.*531T>C MANE Select	ENSP00000495061.1:n.*531T>C
ENST00000645131.1:n.1437T>C
ENST00000306732.7:c.*531T>C	ENSP00000304169.3:n.*531T>C
ENST00000354925.6:c.*531T>C	ENSP00000347004.2:n.*531T>C
ENST00000355080.9:c.*531T>C	ENSP00000347192.5:n.*531T>C
ENST00000394595.7:c.*754T>C	ENSP00000378095.3:n.*754T>C
ENST00000394598.6:c.*531T>C	ENSP00000378097.2:n.*531T>C
ENST00000607868.1:n.1233T>C
ENST00000613094.4:c.*531T>C	ENSP00000484763.1:n.*531T>C
ENST00000614423.4:c.*531T>C	ENSP00000481951.1:n.*531T>C
ENST00000616641.4:c.*531T>C	ENSP00000484909.1:n.*531T>C
NM_000325.5:c.*531T>C	NP_000316.2:n.*531T>C
NM_001204397.1:c.*531T>C	NP_001191326.1:n.*531T>C
NM_001204398.1:c.*531T>C	NP_001191327.1:n.*531T>C
NM_001204399.1:c.*531T>C	NP_001191328.1:n.*531T>C
NM_153426.2:c.*531T>C	NP_700475.1:n.*531T>C
NM_153427.2:c.*531T>C	NP_700476.1:n.*531T>C
XM_006714235.2:c.*531T>C	XP_006714298.1:n.*531T>C
XM_011532027.1:c.*531T>C	XP_011530329.1:n.*531T>C
XM_024454090.1:c.*531T>C	XP_024309858.1:n.*531T>C
NM_000325.6:c.*531T>C MANE Select	NP_000316.2:n.*531T>C
NM_001204397.2:c.*531T>C	NP_001191326.1:n.*531T>C
NM_153426.3:c.*531T>C	NP_700475.1:n.*531T>C
NM_153427.3:c.*531T>C	NP_700476.1:n.*531T>C