Original source

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

Alleles
C/A/T | Ancestral: C | Ambiguity code: H | MAF: < 0.01 (A)
Location

Chromosome 2:234669619 (forward strand) | View in location tab

Co-located

with COSMIC COSM383294 (C/A) ; HGMD-PUBLIC CM951260

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 48 HGVS names - click the plus to show

Variant allele A
2:g.234669619C>A
ENST00000373445.1:c.856-6061C>A
ENST00000373409.3:c.868-6061C>A
ENST00000305139.6:c.862-6061C>A
ENST00000482026.1:c.868-6061C>A
ENST00000446481.2:c.61-6061C>A
ENST00000373424.1:c.61-6061C>A
ENST00000608383.1:c.686C>A
ENSP00000476741.1:p.Pro229Gln
ENST00000608381.1:c.868-6061C>A
ENST00000373426.3:c.856-6061C>A
ENST00000450233.1:c.868-6061C>A
ENST00000609637.1:c.856-6061C>A
ENST00000360418.3:c.686C>A
ENSP00000353593.3:p.Pro229Gln
ENST00000609767.1:c.868-6061C>A
ENST00000373414.3:c.868-6061C>A
ENST00000406651.1:c.61-6061C>A
ENST00000305208.5:c.686C>A
ENSP00000304845.5:p.Pro229Gln
ENST00000373450.4:c.856-6061C>A
ENST00000344644.5:c.856-6061C>A
ENST00000354728.4:c.856-6061C>A
ENST00000484784.2:c.*238-6061C>A

Variant allele T
2:g.234669619C>T
ENST00000373445.1:c.856-6061C>T
ENST00000373409.3:c.868-6061C>T
ENST00000305139.6:c.862-6061C>T
ENST00000482026.1:c.868-6061C>T
ENST00000446481.2:c.61-6061C>T
ENST00000373424.1:c.61-6061C>T
ENST00000608383.1:c.686C>T
ENSP00000476741.1:p.Pro229Leu
ENST00000608381.1:c.868-6061C>T
ENST00000373426.3:c.856-6061C>T
ENST00000450233.1:c.868-6061C>T
ENST00000609637.1:c.856-6061C>T
ENST00000360418.3:c.686C>T
ENSP00000353593.3:p.Pro229Leu
ENST00000609767.1:c.868-6061C>T
ENST00000373414.3:c.868-6061C>T
ENST00000406651.1:c.61-6061C>T
ENST00000305208.5:c.686C>T
ENSP00000304845.5:p.Pro229Leu
ENST00000373450.4:c.856-6061C>T
ENST00000344644.5:c.856-6061C>T
ENST00000354728.4:c.856-6061C>T
ENST00000484784.2:c.*238-6061C>T

This variation has assays on 5 chips - click the plus to show

Variation displays