Original source

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

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

Chromosome 2:179320828 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM072984

Most severe consequence
Evidence status

Clinical significance

This variation has 11 HGVS names - click the plus to show

2:g.179320828C>T
ENST00000442710.1:c.341C>T
ENSP00000410776.1:p.Arg115Ter
ENST00000375129.4:c.499C>T
ENSP00000364271.4:p.Arg167Ter
ENST00000444615.1:c.141C>T
ENSP00000399579.1:p.Arg48Ter
ENST00000409117.3:c.499C>T
ENSP00000386647.3:p.Arg167Ter
ENST00000437056.1:n.1369C>T
ENST00000605419.1:n.93C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays