Canonical Allele Identifier: CA440822274

Gene: PITX2

Linked Data

• gnomAD v3: 4-110618323-C-G
• gnomAD v4: 4-110618323-C-G
• MyVariant Identifiers: chr4:g.111539479C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618323C>G , CM000666.2:g.110618323C>G	GRCh38
NC_000004.11:g.111539479C>G , CM000666.1:g.111539479C>G	GRCh37
NC_000004.10:g.111758928C>G	NCBI36
NG_007120.1:g.24030G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*25G>C	ENSP00000484763.2:n.*25G>C
ENST00000614423.5:c.675G>C	ENSP00000481951.2:p.Ser225=
ENST00000616641.5:n.743G>C
ENST00000644488.2:n.747G>C
ENST00000394595.8:c.756G>C	ENSP00000378095.4:p.Ser252=
ENST00000644488.1:n.819G>C
ENST00000644743.1:c.777G>C MANE Select	ENSP00000495061.1:p.Ser259=
ENST00000645131.1:n.708G>C
ENST00000306732.7:c.777G>C	ENSP00000304169.3:p.Ser259=
ENST00000354925.6:c.756G>C	ENSP00000347004.2:p.Ser252=
ENST00000355080.9:c.618G>C	ENSP00000347192.5:p.Ser206=
ENST00000394595.7:c.*25G>C	ENSP00000378095.3:n.*25G>C
ENST00000394598.6:c.756G>C	ENSP00000378097.2:p.Ser252=
ENST00000511837.5:c.756G>C	ENSP00000421454.1:p.Ser252=
ENST00000607868.1:n.504G>C
ENST00000613094.4:c.756G>C	ENSP00000484763.1:p.Ser252=
ENST00000614423.4:c.756G>C	ENSP00000481951.1:p.Ser252=
ENST00000616641.4:c.618G>C	ENSP00000484909.1:p.Ser206=
NM_000325.5:c.777G>C	NP_000316.2:p.Ser259=
NM_001204397.1:c.756G>C	NP_001191326.1:p.Ser252=
NM_001204398.1:c.756G>C	NP_001191327.1:p.Ser252=
NM_001204399.1:c.618G>C	NP_001191328.1:p.Ser206=
NM_153426.2:c.756G>C	NP_700475.1:p.Ser252=
NM_153427.2:c.618G>C	NP_700476.1:p.Ser206=
XM_006714235.2:c.756G>C	XP_006714298.1:p.Ser252=
XM_011532027.1:c.618G>C	XP_011530329.1:p.Ser206=
XM_024454090.1:c.423G>C	XP_024309858.1:p.Ser141=
NM_000325.6:c.777G>C MANE Select	NP_000316.2:p.Ser259=
NM_001204397.2:c.756G>C	NP_001191326.1:p.Ser252=
NM_153426.3:c.756G>C	NP_700475.1:p.Ser252=
NM_153427.3:c.618G>C	NP_700476.1:p.Ser206=