Canonical Allele Identifier: CA2168060
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232528877G>A
GRCh37 chr2:g.233393587G>A
gnomAD v2:
2:233393587 G / A
gnomAD v3:
2:232528877 G / A
gnomAD v4:
chr2-232528877-G-A
Joint Max Group AF 0.00397444 (EAS)
Genomes Max Group AF 0.00149198 (EAS)
Exomes Max Group AF 0.00418167 (EAS)
ClinVar RCV:
RCV000374066
RCV000887600
ClinVar Variation:
334966
dbSNP:
56203086
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232528877G>A , CM000664.2:g.232528877G>A GRCh38
NC_000002.11:g.233393587G>A , CM000664.1:g.233393587G>A GRCh37
NC_000002.10:g.233101831G>A NCBI36
NG_008028.1:g.7666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.525G>A MANE Select ENSP00000258385.3:p.Thr175=
ENST00000258385.7:c.525G>A ENSP00000258385.3:p.Thr175=
ENST00000412233.5:c.509+221G>A ENSP00000398143.1:n.509+221G>A
ENST00000441621.6:c.509+221G>A ENSP00000408819.2:n.509+221G>A
ENST00000446616.1:c.*166G>A ENSP00000410801.1:n.*166G>A
ENST00000449596.5:c.480G>A ENSP00000404950.1:p.Thr160=
ENST00000543200.5:c.480G>A ENSP00000438380.1:p.Thr160=
NM_000751.2:c.525G>A NP_000742.1:p.Thr175=
NM_001256657.1:c.480G>A NP_001243586.1:p.Thr160=
NM_001311195.1:c.238+221G>A NP_001298124.1:n.238+221G>A
NM_001311196.1:c.222G>A NP_001298125.1:p.Thr74=
NR_046333.1:c.-4294966731+221G>A
NR_046334.1:c.-4294966747G>A
XM_011510524.1:c.238+221G>A XP_011508826.1:n.238+221G>A
XM_011510524.2:c.238+221G>A XP_011508826.1:n.238+221G>A
NM_000751.3:c.525G>A MANE Select NP_000742.1:p.Thr175=
NM_001311195.2:c.238+221G>A NP_001298124.1:n.238+221G>A
NM_001311196.2:c.222G>A NP_001298125.1:p.Thr74=
NM_001256657.2:c.480G>A NP_001243586.1:p.Thr160=
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