Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 2:151839238 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM001066

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 10707, 2010_April_001_007_CACNB4_601949_0001

HGVS names

This variant has 14 HGVS names - Hide

2:g.151839238G>A
ENST00000534999.5:c.1342C>T
ENSP00000443893.1:p.Arg448Ter
ENST00000397327.6:c.1303C>T
ENSP00000380490.2:p.Arg435Ter
ENST00000360283.10:c.*659C>T
ENST00000427385.5:c.1390C>T
ENSP00000410978.1:p.Arg464Ter
ENST00000201943.9:c.1258C>T
ENSP00000201943.5:p.Arg420Ter
ENST00000539935.5:c.1444C>T
ENSP00000438949.1:p.Arg482Ter
ENST00000439467.5:c.1429C>T
ENSP00000390161.1:p.Arg477Ter

About this variant

This variant overlaps 7 transcripts, has 1 sample genotype and is associated with 2 phenotypes.

Variant displays