Original source

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

Alleles
C/A | Ancestral: C | Ambiguity code: M
Location

Chromosome 2:96254998 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CS101230

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_017849.3:c.245-1G>T

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

2:g.96254998C>A
ENST00000435268.1:c.-8-1G>T
ENST00000258439.4:c.245-1G>T
ENST00000432959.1:c.245-1G>T
LRG_528:g.16016G>T
LRG_528t1.1:c.245-1G>T

Variation displays