Canonical Allele Identifier: CA357983894

Gene: PITX2

Linked Data

• dbSNP Id: rs2110431668
• gnomAD v4: 4-110618452-G-C
• MyVariant Identifiers: chr4:g.111539608G>C (hg19) ; chr4:g.110618452G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618452G>C , CM000666.2:g.110618452G>C	GRCh38
NC_000004.11:g.111539608G>C , CM000666.1:g.111539608G>C	GRCh37
NC_000004.10:g.111759057G>C	NCBI36
NG_007120.1:g.23901C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000613094.5:c.421C>G	ENSP00000484763.2:p.His141Asp
ENST00000614423.5:c.546C>G	ENSP00000481951.2:p.Ser182Arg
ENST00000616641.5:n.614C>G
ENST00000644488.2:n.618C>G
ENST00000394595.8:c.627C>G	ENSP00000378095.4:p.Ser209Arg
ENST00000644488.1:n.690C>G
ENST00000644743.1:c.648C>G MANE Select	ENSP00000495061.1:p.Ser216Arg
ENST00000645131.1:n.579C>G
ENST00000306732.7:c.648C>G	ENSP00000304169.3:p.Ser216Arg
ENST00000354925.6:c.627C>G	ENSP00000347004.2:p.Ser209Arg
ENST00000355080.9:c.489C>G	ENSP00000347192.5:p.Ser163Arg
ENST00000394595.7:c.421C>G	ENSP00000378095.3:p.His141Asp
ENST00000394598.6:c.627C>G	ENSP00000378097.2:p.Ser209Arg
ENST00000511837.5:c.627C>G	ENSP00000421454.1:p.Ser209Arg
ENST00000607868.1:n.375C>G
ENST00000613094.4:c.627C>G	ENSP00000484763.1:p.Ser209Arg
ENST00000614423.4:c.627C>G	ENSP00000481951.1:p.Ser209Arg
ENST00000616641.4:c.489C>G	ENSP00000484909.1:p.Ser163Arg
NM_000325.5:c.648C>G	NP_000316.2:p.Ser216Arg
NM_001204397.1:c.627C>G	NP_001191326.1:p.Ser209Arg
NM_001204398.1:c.627C>G	NP_001191327.1:p.Ser209Arg
NM_001204399.1:c.489C>G	NP_001191328.1:p.Ser163Arg
NM_153426.2:c.627C>G	NP_700475.1:p.Ser209Arg
NM_153427.2:c.489C>G	NP_700476.1:p.Ser163Arg
XM_006714235.2:c.627C>G	XP_006714298.1:p.Ser209Arg
XM_011532027.1:c.489C>G	XP_011530329.1:p.Ser163Arg
XM_024454090.1:c.294C>G	XP_024309858.1:p.Ser98Arg
NM_000325.6:c.648C>G MANE Select	NP_000316.2:p.Ser216Arg
NM_001204397.2:c.627C>G	NP_001191326.1:p.Ser209Arg
NM_153426.3:c.627C>G	NP_700475.1:p.Ser209Arg
NM_153427.3:c.489C>G	NP_700476.1:p.Ser163Arg