Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R | MAF: < 0.01 (A)
Location

Chromosome 2:26477210 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM021652

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

This variant has 4 synonyms - click the plus to show

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

2:g.26477210G>A
ENST00000403946.7:c.2485C>T
ENSP00000385255.3:p.Gln829Ter
ENST00000338581.10:c.244C>T
ENSP00000345137.6:p.Gln82Ter
ENST00000272371.6:c.2485C>T
ENSP00000272371.2:p.Gln829Ter
ENST00000339598.7:c.244C>T
ENSP00000344521.3:p.Gln82Ter
ENST00000402415.7:c.415C>T
ENSP00000383906.3:p.Gln139Ter

Genotyping chips

This variant has assays on: HumanCoreExome-12, Illumina_ExomeChip

About this variant

This variant overlaps 6 transcripts, 1 regulatory feature, has 2504 sample genotypes, is associated with 2 phenotypes and is mentioned in 3 citations.

Variant displays