Original source

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

Alleles
T/C | Ancestral: T | Ambiguity code: Y
Location

Chromosome 2:241767734 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050362

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 16166

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

2:g.241767734T>C
ENST00000445308.1:c.727T>C
ENSP00000387479.1:p.Val243Ala
ENST00000473126.1:n.530T>C
ENST00000321264.7:c.1331T>C
ENSP00000315351.4:p.Val444Ala
ENST00000610344.1:c.*175T>C
ENST00000468064.4:n.1221T>C
ENST00000403782.4:c.929T>C
ENSP00000384723.1:p.Val310Ala
ENST00000400769.5:c.*81T>C
ENST00000436747.4:c.*2567T>C
ENST00000470343.4:n.812T>C
ENST00000486953.4:n.1155T>C

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variation displays