Original source

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

Alleles
G/A/C | Ancestral: G | Ambiguity code: V
Location

Chromosome 2:240871433 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910016

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12573, NM_000030.2:c.508G>A

This variation has 10 HGVS names - click the plus to show

Variant allele A
2:g.240871433G>A
ENST00000476698.1:n.245G>A
ENST00000472436.1:n.528G>A
ENST00000307503.3:c.508G>A
ENSP00000302620.3:p.Gly170Arg

Variant allele C
2:g.240871433G>C
ENST00000476698.1:n.245G>C
ENST00000472436.1:n.528G>C
ENST00000307503.3:c.508G>C
ENSP00000302620.3:p.Gly170Arg

Genotyping chips

This variation has assays on: Illumina_ExomeChip, HumanCoreExome-12

Variation displays