Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 2:96254117 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS101229

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_017849.3:c.410-2A>C

This variation has 6 HGVS names - click the plus to show

2:g.96254117T>G
ENST00000435268.1:c.158-2A>C
ENST00000258439.4:c.410-2A>C
ENST00000432959.1:c.410-2A>C
LRG_528:g.16897A>C
LRG_528t1.1:c.410-2A>C

Variation displays