Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 2:26475453 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053367

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 3 synonyms - click the plus to show

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

2:g.26475453A>G
ENST00000403946.7:c.3032T>C
ENSP00000385255.3:p.Leu1011Pro
ENST00000338581.10:c.791T>C
ENSP00000345137.6:p.Leu264Pro
ENST00000339598.7:c.791T>C
ENSP00000344521.3:p.Leu264Pro
ENST00000272371.6:c.3032T>C
ENSP00000272371.2:p.Leu1011Pro
ENST00000402415.7:c.962T>C
ENSP00000383906.3:p.Leu321Pro

About this variant

This variant overlaps 6 transcripts, is associated with 3 phenotypes and is mentioned in 2 citations.

Variant displays