Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M | MAF: < 0.01 (A)
Location

Chromosome 2:151880879 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM001065

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

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

2:g.151880879C>A
ENST00000534999.2:c.209G>T
ENSP00000443893.1:p.Cys70Phe
ENST00000397327.3:c.170G>T
ENSP00000380490.2:p.Cys57Phe
ENST00000434468.1:c.170G>T
ENSP00000399242.1:p.Cys57Phe
ENST00000360283.7:c.209G>T
ENSP00000353425.7:p.Cys70Phe
ENST00000427385.2:c.257G>T
ENSP00000410978.1:p.Cys86Phe
ENST00000470066.1:n.216G>T
ENST00000201943.6:c.311G>T
ENSP00000201943.5:p.Cys104Phe
ENST00000539935.2:c.311G>T
ENSP00000438949.1:p.Cys104Phe
ENST00000439467.2:c.296G>T
ENSP00000390161.1:p.Cys99Phe

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays