Canonical Allele Identifier: CA357984226

Gene: PITX2

Linked Data

• gnomAD v4: 4-110618574-C-T
• MyVariant Identifiers: chr4:g.111539730C>T (hg19) ; chr4:g.110618574C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618574C>T , CM000666.2:g.110618574C>T	GRCh38
NC_000004.11:g.111539730C>T , CM000666.1:g.111539730C>T	GRCh37
NC_000004.10:g.111759179C>T	NCBI36
NG_007120.1:g.23779G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.299G>A	ENSP00000484763.2:p.Arg100Gln
ENST00000614423.5:c.424G>A	ENSP00000481951.2:p.Asp142Asn
ENST00000616641.5:n.492G>A
ENST00000644488.2:n.496G>A
ENST00000394595.8:c.505G>A	ENSP00000378095.4:p.Asp169Asn
ENST00000644488.1:n.568G>A
ENST00000644743.1:c.526G>A MANE Select	ENSP00000495061.1:p.Asp176Asn
ENST00000645131.1:n.457G>A
ENST00000306732.7:c.526G>A	ENSP00000304169.3:p.Asp176Asn
ENST00000354925.6:c.505G>A	ENSP00000347004.2:p.Asp169Asn
ENST00000355080.9:c.367G>A	ENSP00000347192.5:p.Asp123Asn
ENST00000394595.7:c.299G>A	ENSP00000378095.3:p.Arg100Gln
ENST00000394598.6:c.505G>A	ENSP00000378097.2:p.Asp169Asn
ENST00000511837.5:c.505G>A	ENSP00000421454.1:p.Asp169Asn
ENST00000556049.1:n.832G>A
ENST00000607868.1:n.253G>A
ENST00000613094.4:c.505G>A	ENSP00000484763.1:p.Asp169Asn
ENST00000614423.4:c.505G>A	ENSP00000481951.1:p.Asp169Asn
ENST00000616641.4:c.367G>A	ENSP00000484909.1:p.Asp123Asn
NM_000325.5:c.526G>A	NP_000316.2:p.Asp176Asn
NM_001204397.1:c.505G>A	NP_001191326.1:p.Asp169Asn
NM_001204398.1:c.505G>A	NP_001191327.1:p.Asp169Asn
NM_001204399.1:c.367G>A	NP_001191328.1:p.Asp123Asn
NM_153426.2:c.505G>A	NP_700475.1:p.Asp169Asn
NM_153427.2:c.367G>A	NP_700476.1:p.Asp123Asn
XM_006714235.2:c.505G>A	XP_006714298.1:p.Asp169Asn
XM_011532027.1:c.367G>A	XP_011530329.1:p.Asp123Asn
XM_024454090.1:c.172G>A	XP_024309858.1:p.Asp58Asn
NM_000325.6:c.526G>A MANE Select	NP_000316.2:p.Asp176Asn
NM_001204397.2:c.505G>A	NP_001191326.1:p.Asp169Asn
NM_153426.3:c.505G>A	NP_700475.1:p.Asp169Asn
NM_153427.3:c.367G>A	NP_700476.1:p.Asp123Asn