Canonical Allele Identifier: CA3045636

Gene: PITX2

Linked Data

• ClinVar Variation Id: 281515
• ClinVar RCV Id: RCV000372438
• dbSNP Id: rs150684621
• ExAC: 4:111553624 G / A
• gnomAD v2: 4-111553624-G-A
• gnomAD v3: 4-110632468-G-A
• gnomAD v4: 4-110632468-G-A
• MyVariant Identifiers: chr4:g.111553624G>A (hg19) ; chr4:g.110632468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110632468G>A , CM000666.2:g.110632468G>A	GRCh38
NC_000004.11:g.111553624G>A , CM000666.1:g.111553624G>A	GRCh37
NC_000004.10:g.111773073G>A	NCBI36
NG_007120.1:g.9885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.59C>T	ENSP00000484763.2:p.Ala20Val
ENST00000616641.5:n.46C>T
ENST00000394595.8:c.59C>T	ENSP00000378095.4:p.Ala20Val
ENST00000354925.6:c.59C>T	ENSP00000347004.2:p.Ala20Val
ENST00000355080.9:c.46+485C>T	ENSP00000347192.5:n.46+485C>T
ENST00000394595.7:c.59C>T	ENSP00000378095.3:p.Ala20Val
ENST00000394598.6:c.59C>T	ENSP00000378097.2:p.Ala20Val
ENST00000511837.5:c.59C>T	ENSP00000421454.1:p.Ala20Val
ENST00000511990.1:c.46+485C>T	ENSP00000424142.1:n.46+485C>T
ENST00000613094.4:c.59C>T	ENSP00000484763.1:p.Ala20Val
ENST00000614423.4:c.59C>T	ENSP00000481951.1:p.Ala20Val
ENST00000616641.4:c.46+485C>T	ENSP00000484909.1:n.46+485C>T
NM_001204397.1:c.59C>T	NP_001191326.1:p.Ala20Val
NM_001204398.1:c.59C>T	NP_001191327.1:p.Ala20Val
NM_001204399.1:c.46+485C>T	NP_001191328.1:n.46+485C>T
NM_153426.2:c.59C>T	NP_700475.1:p.Ala20Val
NM_153427.2:c.46+485C>T	NP_700476.1:n.46+485C>T
XM_006714235.2:c.59C>T	XP_006714298.1:p.Ala20Val
XM_011532027.1:c.46+485C>T	XP_011530329.1:n.46+485C>T
NM_001204397.2:c.59C>T	NP_001191326.1:p.Ala20Val
NM_153426.3:c.59C>T	NP_700475.1:p.Ala20Val
NM_153427.3:c.46+485C>T	NP_700476.1:n.46+485C>T