Canonical Allele Identifier: CA357983560

Gene: PITX2

Linked Data

• gnomAD v3: 4-110618330-C-T
• gnomAD v4: 4-110618330-C-T
• COSMIC: COSM6098674 ; COSM6098675
• MyVariant Identifiers: chr4:g.111539486C>T (hg19) ; chr4:g.110618330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618330C>T , CM000666.2:g.110618330C>T	GRCh38
NC_000004.11:g.111539486C>T , CM000666.1:g.111539486C>T	GRCh37
NC_000004.10:g.111758935C>T	NCBI36
NG_007120.1:g.24023G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.*18G>A	ENSP00000484763.2:n.*18G>A
ENST00000614423.5:c.668G>A	ENSP00000481951.2:p.Ser223Asn
ENST00000616641.5:n.736G>A
ENST00000644488.2:n.740G>A
ENST00000394595.8:c.749G>A	ENSP00000378095.4:p.Ser250Asn
ENST00000644488.1:n.812G>A
ENST00000644743.1:c.770G>A MANE Select	ENSP00000495061.1:p.Ser257Asn
ENST00000645131.1:n.701G>A
ENST00000306732.7:c.770G>A	ENSP00000304169.3:p.Ser257Asn
ENST00000354925.6:c.749G>A	ENSP00000347004.2:p.Ser250Asn
ENST00000355080.9:c.611G>A	ENSP00000347192.5:p.Ser204Asn
ENST00000394595.7:c.*18G>A	ENSP00000378095.3:n.*18G>A
ENST00000394598.6:c.749G>A	ENSP00000378097.2:p.Ser250Asn
ENST00000511837.5:c.749G>A	ENSP00000421454.1:p.Ser250Asn
ENST00000607868.1:n.497G>A
ENST00000613094.4:c.749G>A	ENSP00000484763.1:p.Ser250Asn
ENST00000614423.4:c.749G>A	ENSP00000481951.1:p.Ser250Asn
ENST00000616641.4:c.611G>A	ENSP00000484909.1:p.Ser204Asn
NM_000325.5:c.770G>A	NP_000316.2:p.Ser257Asn
NM_001204397.1:c.749G>A	NP_001191326.1:p.Ser250Asn
NM_001204398.1:c.749G>A	NP_001191327.1:p.Ser250Asn
NM_001204399.1:c.611G>A	NP_001191328.1:p.Ser204Asn
NM_153426.2:c.749G>A	NP_700475.1:p.Ser250Asn
NM_153427.2:c.611G>A	NP_700476.1:p.Ser204Asn
XM_006714235.2:c.749G>A	XP_006714298.1:p.Ser250Asn
XM_011532027.1:c.611G>A	XP_011530329.1:p.Ser204Asn
XM_024454090.1:c.416G>A	XP_024309858.1:p.Ser139Asn
NM_000325.6:c.770G>A MANE Select	NP_000316.2:p.Ser257Asn
NM_001204397.2:c.749G>A	NP_001191326.1:p.Ser250Asn
NM_153426.3:c.749G>A	NP_700475.1:p.Ser250Asn
NM_153427.3:c.611G>A	NP_700476.1:p.Ser204Asn