Canonical Allele Identifier: CA2168126
Gene: CHRND HGNC NCBI
COSMIC:
COSM77473
MyVariant.info:
GRCh38 chr2:g.232530047G>A
GRCh37 chr2:g.233394757G>A
Revel Score:
ENST00000543200 0.643
ENST00000258385 (MANE Select) 0.643
gnomAD v2:
2:233394757 G / A
gnomAD v3:
2:232530047 G / A
gnomAD v4:
chr2-232530047-G-A
Joint Max Group AF 0.00029887 (AFR)
Genomes Max Group AF 0.00032026 (AFR)
Exomes Max Group AF 0.00018338 (AFR)
ClinVar RCV:
RCV000538556
RCV001357055
ClinVar Variation:
466196
dbSNP:
148869069
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232530047G>A , CM000664.2:g.232530047G>A GRCh38
NC_000002.11:g.233394757G>A , CM000664.1:g.233394757G>A GRCh37
NC_000002.10:g.233103001G>A NCBI36
NG_008028.1:g.8836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.728G>A MANE Select ENSP00000258385.3:p.Arg243His
ENST00000258385.7:c.728G>A ENSP00000258385.3:p.Arg243His
ENST00000412233.5:c.510-1305G>A ENSP00000398143.1:n.510-1305G>A
ENST00000441621.6:c.618G>A ENSP00000408819.2:p.Pro206=
ENST00000446616.1:c.*369G>A ENSP00000410801.1:n.*369G>A
ENST00000543200.5:c.683G>A ENSP00000438380.1:p.Arg228His
NM_000751.2:c.728G>A NP_000742.1:p.Arg243His
NM_001256657.1:c.683G>A NP_001243586.1:p.Arg228His
NM_001311195.1:c.239-1305G>A NP_001298124.1:n.239-1305G>A
NM_001311196.1:c.425G>A NP_001298125.1:p.Arg142His
NR_046333.1:c.-4294966730-1305G>A
NR_046334.1:c.-4294966544G>A
XM_011510524.1:c.347G>A XP_011508826.1:p.Arg116His
XM_011510524.2:c.347G>A XP_011508826.1:p.Arg116His
NM_000751.3:c.728G>A MANE Select NP_000742.1:p.Arg243His
NM_001311195.2:c.239-1305G>A NP_001298124.1:n.239-1305G>A
NM_001311196.2:c.425G>A NP_001298125.1:p.Arg142His
NM_001256657.2:c.683G>A NP_001243586.1:p.Arg228His
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