Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 2:113246785 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM042762

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 4519, 2010_April_001_103_PAX8_167415_0006

This variation has 24 HGVS names - click the plus to show

2:g.113246785T>C
ENST00000263334.8:c.160A>G
ENSP00000263334.6:p.Ser54Gly
ENST00000429538.6:c.160A>G
ENSP00000395498.3:p.Ser54Gly
ENST00000436293.5:n.355-3982T>C
ENST00000556070.4:n.35+11215T>C
ENST00000263335.10:c.160A>G
ENSP00000263335.7:p.Ser54Gly
ENST00000397647.6:c.160A>G
ENSP00000380768.3:p.Ser54Gly
ENST00000451179.4:n.164+8573T>C
ENST00000616073.3:n.142-8605T>C
ENST00000348715.8:c.160A>G
ENSP00000314750.5:p.Ser54Gly
ENST00000624706.2:n.150-3982T>C
ENST00000445745.4:n.378-8605T>C
ENST00000422956.5:n.36-8605T>C
ENST00000617509.3:n.152-8605T>C
ENST00000467778.4:n.324A>G
ENST00000333145.8:n.133-8605T>C
ENST00000553869.5:n.154+8573T>C
ENST00000623306.2:n.147-3982T>C
ENST00000554830.2:c.-40-4007A>G

About this variant

This variant overlaps 19 transcripts and is associated with 2 phenotypes.

Variation displays