Canonical Allele Identifier: CA2168184
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232531424G>A
GRCh37 chr2:g.233396134G>A
Revel Score:
ENST00000543200 0.465
ENST00000258385 (MANE Select) 0.465
ENST00000457943 0.465
gnomAD v2:
2:233396134 G / A
gnomAD v3:
2:232531424 G / A
gnomAD v4:
chr2-232531424-G-A
Joint Max Group AF 0.00140147 (SAS)
Genomes Max Group AF 0.00040873 (SAS)
Exomes Max Group AF 0.00142516 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531424G>A , CM000664.2:g.232531424G>A GRCh38
NC_000002.11:g.233396134G>A , CM000664.1:g.233396134G>A GRCh37
NC_000002.10:g.233104378G>A NCBI36
NG_008028.1:g.10213G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.893G>A MANE Select ENSP00000258385.3:p.Arg298His
ENST00000258385.7:c.893G>A ENSP00000258385.3:p.Arg298His
ENST00000412233.5:c.*66G>A ENSP00000398143.1:n.*66G>A
ENST00000441621.6:c.*75G>A ENSP00000408819.2:n.*75G>A
ENST00000446616.1:c.*534G>A ENSP00000410801.1:n.*534G>A
ENST00000543200.5:c.848G>A ENSP00000438380.1:p.Arg283His
NM_000751.2:c.893G>A NP_000742.1:p.Arg298His
NM_001256657.1:c.848G>A NP_001243586.1:p.Arg283His
NM_001311195.1:c.311G>A NP_001298124.1:p.Arg104His
NM_001311196.1:c.590G>A NP_001298125.1:p.Arg197His
NR_046333.1:c.-4294966658G>A
NR_046334.1:c.-4294966379G>A
XM_011510524.1:c.512G>A XP_011508826.1:p.Arg171His
XM_011510524.2:c.512G>A XP_011508826.1:p.Arg171His
NM_000751.3:c.893G>A MANE Select NP_000742.1:p.Arg298His
NM_001311195.2:c.311G>A NP_001298124.1:p.Arg104His
NM_001311196.2:c.590G>A NP_001298125.1:p.Arg197His
NM_001256657.2:c.848G>A NP_001243586.1:p.Arg283His
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