Canonical Allele Identifier: CA3045614

Gene: PITX2

Linked Data

• ClinVar Variation Id: 501397
• ClinVar RCV Id: RCV000596257 ; RCV003945426
• dbSNP Id: rs199725972
• ExAC: 4:111553491 G / T
• gnomAD v2: 4-111553491-G-T
• gnomAD v3: 4-110632335-G-T
• gnomAD v4: 4-110632335-G-T
• MyVariant Identifiers: chr4:g.111553491G>T (hg19) ; chr4:g.110632335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110632335G>T , CM000666.2:g.110632335G>T	GRCh38
NC_000004.11:g.111553491G>T , CM000666.1:g.111553491G>T	GRCh37
NC_000004.10:g.111772940G>T	NCBI36
NG_007120.1:g.10018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000613094.5:c.184+8C>A	ENSP00000484763.2:n.184+8C>A
ENST00000616641.5:n.171+8C>A
ENST00000394595.8:c.184+8C>A	ENSP00000378095.4:n.184+8C>A
ENST00000354925.6:c.184+8C>A	ENSP00000347004.2:n.184+8C>A
ENST00000355080.9:c.46+618C>A	ENSP00000347192.5:n.46+618C>A
ENST00000394595.7:c.184+8C>A	ENSP00000378095.3:n.184+8C>A
ENST00000394598.6:c.184+8C>A	ENSP00000378097.2:n.184+8C>A
ENST00000511837.5:c.184+8C>A	ENSP00000421454.1:n.184+8C>A
ENST00000511990.1:c.46+618C>A	ENSP00000424142.1:n.46+618C>A
ENST00000613094.4:c.184+8C>A	ENSP00000484763.1:n.184+8C>A
ENST00000614423.4:c.184+8C>A	ENSP00000481951.1:n.184+8C>A
ENST00000616641.4:c.46+618C>A	ENSP00000484909.1:n.46+618C>A
NM_001204397.1:c.184+8C>A	NP_001191326.1:n.184+8C>A
NM_001204398.1:c.184+8C>A	NP_001191327.1:n.184+8C>A
NM_001204399.1:c.46+618C>A	NP_001191328.1:n.46+618C>A
NM_153426.2:c.184+8C>A	NP_700475.1:n.184+8C>A
NM_153427.2:c.46+618C>A	NP_700476.1:n.46+618C>A
XM_006714235.2:c.184+8C>A	XP_006714298.1:n.184+8C>A
XM_011532027.1:c.46+618C>A	XP_011530329.1:n.46+618C>A
NM_001204397.2:c.184+8C>A	NP_001191326.1:n.184+8C>A
NM_153426.3:c.184+8C>A	NP_700475.1:n.184+8C>A
NM_153427.3:c.46+618C>A	NP_700476.1:n.46+618C>A