Canonical Allele Identifier: CA357985401

Gene: PITX2

Linked Data

• dbSNP Id: rs1729000211
• gnomAD v3: 4-110621185-G-T
• gnomAD v4: 4-110621185-G-T
• MyVariant Identifiers: chr4:g.111542341G>T (hg19) ; chr4:g.110621185G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110621185G>T , CM000666.2:g.110621185G>T	GRCh38
NC_000004.11:g.111542341G>T , CM000666.1:g.111542341G>T	GRCh37
NC_000004.10:g.111761790G>T	NCBI36
NG_007120.1:g.21168C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.185-2497C>A	ENSP00000484763.2:n.185-2497C>A
ENST00000614423.5:c.288C>A	ENSP00000481951.2:p.Asn96Lys
ENST00000616641.5:n.356C>A
ENST00000644488.2:n.360C>A
ENST00000394595.8:c.369C>A	ENSP00000378095.4:p.Asn123Lys
ENST00000644488.1:n.432C>A
ENST00000644743.1:c.390C>A MANE Select	ENSP00000495061.1:p.Asn130Lys
ENST00000645131.1:n.321C>A
ENST00000306732.7:c.390C>A	ENSP00000304169.3:p.Asn130Lys
ENST00000354925.6:c.369C>A	ENSP00000347004.2:p.Asn123Lys
ENST00000355080.9:c.231C>A	ENSP00000347192.5:p.Asn77Lys
ENST00000394595.7:c.185-2497C>A	ENSP00000378095.3:n.185-2497C>A
ENST00000394598.6:c.369C>A	ENSP00000378097.2:p.Asn123Lys
ENST00000511837.5:c.369C>A	ENSP00000421454.1:p.Asn123Lys
ENST00000511990.1:c.231C>A	ENSP00000424142.1:p.Asn77Lys
ENST00000557119.2:c.390C>A	ENSP00000475617.1:p.Asn130Lys
ENST00000613094.4:c.369C>A	ENSP00000484763.1:p.Asn123Lys
ENST00000614423.4:c.369C>A	ENSP00000481951.1:p.Asn123Lys
ENST00000616641.4:c.231C>A	ENSP00000484909.1:p.Asn77Lys
NM_000325.5:c.390C>A	NP_000316.2:p.Asn130Lys
NM_001204397.1:c.369C>A	NP_001191326.1:p.Asn123Lys
NM_001204398.1:c.369C>A	NP_001191327.1:p.Asn123Lys
NM_001204399.1:c.231C>A	NP_001191328.1:p.Asn77Lys
NM_153426.2:c.369C>A	NP_700475.1:p.Asn123Lys
NM_153427.2:c.231C>A	NP_700476.1:p.Asn77Lys
XM_006714235.2:c.369C>A	XP_006714298.1:p.Asn123Lys
XM_011532027.1:c.231C>A	XP_011530329.1:p.Asn77Lys
XM_024454090.1:c.36C>A	XP_024309858.1:p.Asn12Lys
NM_000325.6:c.390C>A MANE Select	NP_000316.2:p.Asn130Lys
NM_001204397.2:c.369C>A	NP_001191326.1:p.Asn123Lys
NM_153426.3:c.369C>A	NP_700475.1:p.Asn123Lys
NM_153427.3:c.231C>A	NP_700476.1:p.Asn77Lys