Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [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
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

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

2:g.26477210G>A
ENST00000403946.6:c.2485C>T
ENSP00000385255.3:p.Gln829Ter
ENST00000338581.9:c.244C>T
ENSP00000345137.6:p.Gln82Ter
ENST00000339598.6:c.244C>T
ENSP00000344521.3:p.Gln82Ter
ENST00000272371.5:c.2485C>T
ENSP00000272371.2:p.Gln829Ter
ENST00000402415.6:c.415C>T
ENSP00000383906.3:p.Gln139Ter

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

About this variant

This variant overlaps 7 transcripts, has 1092 individual genotypes, is associated with 3 phenotypes and is mentioned in 3 citations.

Variation displays