Canonical Allele Identifier: CA357984212

Gene: PITX2

Linked Data

• dbSNP Id: rs1314320002
• gnomAD v2: 4-111539725-C-G
• gnomAD v4: 4-110618569-C-G
• MyVariant Identifiers: chr4:g.111539725C>G (hg19) ; chr4:g.110618569C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110618569C>G , CM000666.2:g.110618569C>G	GRCh38
NC_000004.11:g.111539725C>G , CM000666.1:g.111539725C>G	GRCh37
NC_000004.10:g.111759174C>G	NCBI36
NG_007120.1:g.23784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.304G>C	ENSP00000484763.2:p.Val102Leu
ENST00000614423.5:c.429G>C	ENSP00000481951.2:p.Met143Ile
ENST00000616641.5:n.497G>C
ENST00000644488.2:n.501G>C
ENST00000394595.8:c.510G>C	ENSP00000378095.4:p.Met170Ile
ENST00000644488.1:n.573G>C
ENST00000644743.1:c.531G>C MANE Select	ENSP00000495061.1:p.Met177Ile
ENST00000645131.1:n.462G>C
ENST00000306732.7:c.531G>C	ENSP00000304169.3:p.Met177Ile
ENST00000354925.6:c.510G>C	ENSP00000347004.2:p.Met170Ile
ENST00000355080.9:c.372G>C	ENSP00000347192.5:p.Met124Ile
ENST00000394595.7:c.304G>C	ENSP00000378095.3:p.Val102Leu
ENST00000394598.6:c.510G>C	ENSP00000378097.2:p.Met170Ile
ENST00000511837.5:c.510G>C	ENSP00000421454.1:p.Met170Ile
ENST00000556049.1:n.837G>C
ENST00000607868.1:n.258G>C
ENST00000613094.4:c.510G>C	ENSP00000484763.1:p.Met170Ile
ENST00000614423.4:c.510G>C	ENSP00000481951.1:p.Met170Ile
ENST00000616641.4:c.372G>C	ENSP00000484909.1:p.Met124Ile
NM_000325.5:c.531G>C	NP_000316.2:p.Met177Ile
NM_001204397.1:c.510G>C	NP_001191326.1:p.Met170Ile
NM_001204398.1:c.510G>C	NP_001191327.1:p.Met170Ile
NM_001204399.1:c.372G>C	NP_001191328.1:p.Met124Ile
NM_153426.2:c.510G>C	NP_700475.1:p.Met170Ile
NM_153427.2:c.372G>C	NP_700476.1:p.Met124Ile
XM_006714235.2:c.510G>C	XP_006714298.1:p.Met170Ile
XM_011532027.1:c.372G>C	XP_011530329.1:p.Met124Ile
XM_024454090.1:c.177G>C	XP_024309858.1:p.Met59Ile
NM_000325.6:c.531G>C MANE Select	NP_000316.2:p.Met177Ile
NM_001204397.2:c.510G>C	NP_001191326.1:p.Met170Ile
NM_153426.3:c.510G>C	NP_700475.1:p.Met170Ile
NM_153427.3:c.372G>C	NP_700476.1:p.Met124Ile