Original source

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

Alleles
A/C/G | Ancestral: A | Ambiguity code: V
Location

Chromosome 2:234676979 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022853

Most severe consequence
Evidence status

Clinical significance

This variation has 6 synonyms - click the plus to show

This variation has 78 HGVS names - click the plus to show

Variant allele C
2:g.234676979A>C
ENST00000373445.1:c.1189A>C
ENSP00000362544.1:p.Asn397His
ENST00000373409.3:c.1201A>C
ENSP00000362508.3:p.Asn401His
ENST00000305139.6:c.1195A>C
ENSP00000303174.6:p.Asn399His
ENST00000482026.1:c.1201A>C
ENSP00000418532.1:p.Asn401His
ENST00000373424.1:c.394A>C
ENSP00000362523.1:p.Asn132His
ENST00000446481.2:c.394A>C
ENSP00000401541.1:p.Asn132His
ENST00000608383.1:c.1198A>C
ENSP00000476741.1:p.Asn400His
ENST00000608381.1:c.1201A>C
ENSP00000477394.1:p.Asn401His
ENST00000373426.3:c.1189A>C
ENSP00000362525.3:p.Asn397His
ENST00000450233.1:c.1201A>C
ENSP00000408608.1:p.Asn401His
ENST00000609637.1:c.1189A>C
ENSP00000476286.1:p.Asn397His
ENST00000360418.3:c.1198A>C
ENSP00000353593.3:p.Asn400His
ENST00000609767.1:c.1201A>C
ENSP00000476805.1:p.Asn401His
ENST00000373414.3:c.1201A>C
ENSP00000362513.3:p.Asn401His
ENST00000305208.5:c.1198A>C
ENSP00000304845.5:p.Asn400His
ENST00000406651.1:c.394A>C
ENSP00000386107.1:p.Asn132His
ENST00000373450.4:c.1189A>C
ENSP00000362549.4:p.Asn397His
ENST00000344644.5:c.1189A>C
ENSP00000343838.5:p.Asn397His
ENST00000354728.4:c.1189A>C
ENSP00000346768.4:p.Asn397His

Variant allele G
2:g.234676979A>G
ENST00000373445.1:c.1189A>G
ENSP00000362544.1:p.Asn397Asp
ENST00000373409.3:c.1201A>G
ENSP00000362508.3:p.Asn401Asp
ENST00000305139.6:c.1195A>G
ENSP00000303174.6:p.Asn399Asp
ENST00000482026.1:c.1201A>G
ENSP00000418532.1:p.Asn401Asp
ENST00000373424.1:c.394A>G
ENSP00000362523.1:p.Asn132Asp
ENST00000446481.2:c.394A>G
ENSP00000401541.1:p.Asn132Asp
ENST00000608383.1:c.1198A>G
ENSP00000476741.1:p.Asn400Asp
ENST00000608381.1:c.1201A>G
ENSP00000477394.1:p.Asn401Asp
ENST00000373426.3:c.1189A>G
ENSP00000362525.3:p.Asn397Asp
ENST00000450233.1:c.1201A>G
ENSP00000408608.1:p.Asn401Asp
ENST00000609637.1:c.1189A>G
ENSP00000476286.1:p.Asn397Asp
ENST00000360418.3:c.1198A>G
ENSP00000353593.3:p.Asn400Asp
ENST00000609767.1:c.1201A>G
ENSP00000476805.1:p.Asn401Asp
ENST00000373414.3:c.1201A>G
ENSP00000362513.3:p.Asn401Asp
ENST00000305208.5:c.1198A>G
ENSP00000304845.5:p.Asn400Asp
ENST00000406651.1:c.394A>G
ENSP00000386107.1:p.Asn132Asp
ENST00000373450.4:c.1189A>G
ENSP00000362549.4:p.Asn397Asp
ENST00000344644.5:c.1189A>G
ENSP00000343838.5:p.Asn397Asp
ENST00000354728.4:c.1189A>G
ENSP00000346768.4:p.Asn397Asp

Genotyping chips

This variation has assays on: Illumina_1M-duo

Variation displays