Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 2:26458074 (forward strand) | View in location tab

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 12105

This variation has 8 HGVS names - click the plus to show

2:g.26458074G>C
ENST00000403946.6:c.5960C>G
ENSP00000385255.3:p.Pro1987Arg
ENST00000338581.9:c.*164C>G
ENST00000339598.6:c.3659C>G
ENSP00000344521.3:p.Pro1220Arg
ENST00000272371.5:c.*164C>G
ENST00000402415.6:c.*164C>G

About this variant

This variant overlaps 7 transcripts and is associated with 2 phenotypes.

Variation displays