Original source

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

Alleles
A/T | Ancestral: A | Ambiguity code: W
Location

Chromosome 2:26466723 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM990991

Most severe consequence
 
Stop gained
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.26466723A>T
ENST00000403946.7:c.4491T>A
ENSP00000385255.3:p.Tyr1497Ter
ENST00000338581.10:c.2190T>A
ENSP00000345137.6:p.Tyr730Ter
ENST00000272371.6:c.4491T>A
ENSP00000272371.2:p.Tyr1497Ter
ENST00000339598.7:c.2190T>A
ENSP00000344521.3:p.Tyr730Ter
ENST00000402415.7:c.2421T>A
ENSP00000383906.3:p.Tyr807Ter

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays