Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

Alleles
T/G | Ancestral: T | Ambiguity code: K
Location

Chromosome 2:242681939 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM050361

Most severe consequence
Clinical significance

Synonyms

LSDB 16167

This variation has 17 HGVS names - click the plus to show

2:g.242681939T>G
ENST00000321264.4:c.440T>G
ENSP00000315351.4:p.Ile147Ser
ENST00000454048.1:c.50T>G
ENSP00000404596.1:p.Ile17Ser
ENST00000403782.1:c.38T>G
ENSP00000384723.1:p.Ile13Ser
ENST00000400769.2:c.440T>G
ENSP00000383580.2:p.Ile147Ser
ENST00000537090.1:c.440T>G
ENSP00000442796.1:p.Ile147Ser
ENST00000436747.1:c.440T>G
ENSP00000400212.1:p.Ile147Ser
ENST00000437164.1:c.92T>G
ENSP00000412511.1:p.Ile31Ser
ENST00000342518.6:c.440T>G
ENSP00000339536.6:p.Ile147Ser

Variation displays