Canonical Allele Identifier: CA16044252

Gene: PITX2

Linked Data

• ClinVar Variation Id: 375442
• ClinVar RCV Id: RCV000416518
• dbSNP Id: rs1057519489
• MyVariant Identifiers: chr4:g.111539449A>T (hg19) ; chr4:g.110618293A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618293A>T , CM000666.2:g.110618293A>T	GRCh38
NC_000004.11:g.111539449A>T , CM000666.1:g.111539449A>T	GRCh37
NC_000004.10:g.111758898A>T	NCBI36
NG_007120.1:g.24060T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.*55T>A	ENSP00000484763.2:n.*55T>A
ENST00000614423.5:c.705T>A	ENSP00000481951.2:p.Cys235Ter
ENST00000616641.5:n.773T>A
ENST00000644488.2:n.777T>A
ENST00000394595.8:c.786T>A	ENSP00000378095.4:p.Cys262Ter
ENST00000644488.1:n.849T>A
ENST00000644743.1:c.807T>A MANE Select	ENSP00000495061.1:p.Cys269Ter
ENST00000645131.1:n.738T>A
ENST00000306732.7:c.807T>A	ENSP00000304169.3:p.Cys269Ter
ENST00000354925.6:c.786T>A	ENSP00000347004.2:p.Cys262Ter
ENST00000355080.9:c.648T>A	ENSP00000347192.5:p.Cys216Ter
ENST00000394595.7:c.*55T>A	ENSP00000378095.3:n.*55T>A
ENST00000394598.6:c.786T>A	ENSP00000378097.2:p.Cys262Ter
ENST00000511837.5:c.786T>A	ENSP00000421454.1:p.Cys262Ter
ENST00000607868.1:n.534T>A
ENST00000613094.4:c.786T>A	ENSP00000484763.1:p.Cys262Ter
ENST00000614423.4:c.786T>A	ENSP00000481951.1:p.Cys262Ter
ENST00000616641.4:c.648T>A	ENSP00000484909.1:p.Cys216Ter
NM_000325.5:c.807T>A	NP_000316.2:p.Cys269Ter
NM_001204397.1:c.786T>A	NP_001191326.1:p.Cys262Ter
NM_001204398.1:c.786T>A	NP_001191327.1:p.Cys262Ter
NM_001204399.1:c.648T>A	NP_001191328.1:p.Cys216Ter
NM_153426.2:c.786T>A	NP_700475.1:p.Cys262Ter
NM_153427.2:c.648T>A	NP_700476.1:p.Cys216Ter
XM_006714235.2:c.786T>A	XP_006714298.1:p.Cys262Ter
XM_011532027.1:c.648T>A	XP_011530329.1:p.Cys216Ter
XM_024454090.1:c.453T>A	XP_024309858.1:p.Cys151Ter
NM_000325.6:c.807T>A MANE Select	NP_000316.2:p.Cys269Ter
NM_001204397.2:c.786T>A	NP_001191326.1:p.Cys262Ter
NM_153426.3:c.786T>A	NP_700475.1:p.Cys262Ter
NM_153427.3:c.648T>A	NP_700476.1:p.Cys216Ter