Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 2:114002071 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM981479

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 2010_April_001_099_PAX8_167415_0002, 4515

This variation has 20 HGVS names - click the plus to show

2:g.114002071G>A
ENST00000263334.5:c.322C>T
ENSP00000263334.5:p.Arg108Ter
ENST00000436293.2:n.355-6273G>A
ENST00000429538.3:c.322C>T
ENSP00000395498.3:p.Arg108Ter
ENST00000556070.1:n.35+8924G>A
ENST00000263335.7:c.322C>T
ENSP00000263335.7:p.Arg108Ter
ENST00000397647.3:c.322C>T
ENSP00000380768.3:p.Arg108Ter
ENST00000451179.1:n.164+6282G>A
ENST00000348715.5:c.322C>T
ENSP00000314750.5:p.Arg108Ter
ENST00000445745.1:n.377+7881G>A
ENST00000422956.2:n.35+8924G>A
ENST00000467778.1:n.486C>T
ENST00000333145.5:n.132+7881G>A
ENST00000553869.2:n.154+6282G>A
ENST00000554830.1:c.26-1716C>T

Variation displays