Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
C/G/T|Ancestral: C|Ambiguity code: B
Location

Chromosome 2:240869202 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM910015

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_000030.2:c.198C>G, 12565

HGVS names

This variant has 8 HGVS names - Hide

Variant allele T
2:g.240869202C>T
ENST00000472436.1:n.218C>T
ENST00000307503.3:c.198C>T
ENST00000307503.3:c.198C>T(p.=)

Variant allele G
2:g.240869202C>G
ENST00000472436.1:n.218C>G
ENST00000307503.3:c.198C>G
ENSP00000302620.3:p.Tyr66Ter

About this variant

This variant overlaps 6 transcripts and is associated with 2 phenotypes.

Variant displays