Original source

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

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

Chromosome 2:98396811 (forward strand) | View in location tab

Co-located

with COSMIC COSM1024216 (C/T) ; HGMD-PUBLIC CM980380

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 8881, 2010_April_001_021_CNGA3_600053_0006

This variation has 14 HGVS names - click the plus to show

Variant allele A
2:g.98396811C>A
ENST00000409937.1:c.1653C>A
ENSP00000386761.1:p.Phe551Leu
ENST00000393504.3:c.1641C>A
ENSP00000377140.1:p.Phe547Leu
ENST00000436404.4:c.1587C>A
ENSP00000410070.2:p.Phe529Leu
ENST00000272602.4:c.1641C>A
ENSP00000272602.2:p.Phe547Leu

Variant allele T
2:g.98396811C>T
ENST00000409937.1:c.1653C>T
ENST00000393504.3:c.1641C>T
ENST00000436404.4:c.1587C>T
ENST00000272602.4:c.1641C>T

Genotyping chips

This variation has assays on: Illumina_ExomeChip

Variation displays