Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/A/T | Ancestral: C | Ambiguity code: H
Location

Chromosome 2:178456149 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM062580

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 2 synonyms - click the plus to show

This variant has 18 HGVS names - click the plus to show

Variant allele A
2:g.178456149C>A
ENST00000442710.5:c.389C>A
ENST00000375129.8:c.547C>A
ENST00000444615.1:c.189C>A
ENST00000409117.7:c.547C>A
ENST00000437056.5:n.1417C>A
ENST00000605419.1:n.141C>A

Variant allele T
2:g.178456149C>T
ENST00000442710.5:c.389C>T
ENSP00000410776.1:p.Arg131Trp
ENST00000375129.8:c.547C>T
ENSP00000364271.4:p.Arg183Trp
ENST00000444615.1:c.189C>T
ENSP00000399579.1:p.Arg64Trp
ENST00000409117.7:c.547C>T
ENSP00000386647.3:p.Arg183Trp
ENST00000437056.5:n.1417C>T
ENST00000605419.1:n.141C>T

About this variant

This variant overlaps 22 transcripts, 1 regulatory feature, has 2 sample genotypes and is associated with 2 phenotypes.

Variant displays