Canonical Allele Identifier: CA2168270
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232534008G>A
GRCh37 chr2:g.233398718G>A
gnomAD v2:
2:233398718 G / A
gnomAD v3:
2:232534008 G / A
gnomAD v4:
chr2-232534008-G-A
Joint Max Group AF 0.00026283 (NFE)
Genomes Max Group AF 0.00013491 (NFE)
Exomes Max Group AF 0.00026553 (NFE)
ClinVar Allele:
270135
ClinVar RCV:
RCV000278066
RCV000642122
ClinVar Variation:
285898
dbSNP:
143246852
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232534008G>A , CM000664.2:g.232534008G>A GRCh38
NC_000002.11:g.233398718G>A , CM000664.1:g.233398718G>A GRCh37
NC_000002.10:g.233106962G>A NCBI36
NG_008028.1:g.12797G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.1125G>A MANE Select ENSP00000258385.3:p.Val375=
ENST00000258385.7:c.1125G>A ENSP00000258385.3:p.Val375=
ENST00000441621.6:c.*307G>A ENSP00000408819.2:n.*307G>A
ENST00000446616.1:c.*766G>A ENSP00000410801.1:n.*766G>A
ENST00000543200.5:c.1080G>A ENSP00000438380.1:p.Val360=
NM_000751.2:c.1125G>A NP_000742.1:p.Val375=
NM_001256657.1:c.1080G>A NP_001243586.1:p.Val360=
NM_001311195.1:c.543G>A NP_001298124.1:p.Val181=
NM_001311196.1:c.822G>A NP_001298125.1:p.Val274=
NR_046333.1:c.-4294966426G>A
NR_046334.1:c.-4294966147G>A
XM_011510524.1:c.744G>A XP_011508826.1:p.Val248=
XM_011510524.2:c.744G>A XP_011508826.1:p.Val248=
NM_000751.3:c.1125G>A MANE Select NP_000742.1:p.Val375=
NM_001311195.2:c.543G>A NP_001298124.1:p.Val181=
NM_001311196.2:c.822G>A NP_001298125.1:p.Val274=
NM_001256657.2:c.1080G>A NP_001243586.1:p.Val360=
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