Canonical Allele Identifier: CA66952998
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232530088T>C
GRCh37 chr2:g.233394798T>C
Revel Score:
ENST00000543200 0.914
ENST00000258385 (MANE Select) 0.914
ENST00000536614 0.401
gnomAD v2:
2:233394798 T / C
gnomAD v3:
2:232530088 T / C
gnomAD v4:
chr2-232530088-T-C
Joint Max Group AF 0.00002665 (NFE)
Exomes Max Group AF 0.00002743 (NFE)
ClinVar RCV:
RCV000642109
ClinVar Variation:
534526
dbSNP:
776218605
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232530088T>C , CM000664.2:g.232530088T>C GRCh38
NC_000002.11:g.233394798T>C , CM000664.1:g.233394798T>C GRCh37
NC_000002.10:g.233103042T>C NCBI36
NG_008028.1:g.8877T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.769T>C MANE Select ENSP00000258385.3:p.Cys257Arg
ENST00000258385.7:c.769T>C ENSP00000258385.3:p.Cys257Arg
ENST00000412233.5:c.510-1264T>C ENSP00000398143.1:n.510-1264T>C
ENST00000441621.6:c.659T>C ENSP00000408819.2:p.Leu220Pro
ENST00000446616.1:c.*410T>C ENSP00000410801.1:n.*410T>C
ENST00000543200.5:c.724T>C ENSP00000438380.1:p.Cys242Arg
NM_000751.2:c.769T>C NP_000742.1:p.Cys257Arg
NM_001256657.1:c.724T>C NP_001243586.1:p.Cys242Arg
NM_001311195.1:c.239-1264T>C NP_001298124.1:n.239-1264T>C
NM_001311196.1:c.466T>C NP_001298125.1:p.Cys156Arg
NR_046333.1:c.-4294966730-1264T>C
NR_046334.1:c.-4294966503T>C
XM_011510524.1:c.388T>C XP_011508826.1:p.Cys130Arg
XM_011510524.2:c.388T>C XP_011508826.1:p.Cys130Arg
NM_000751.3:c.769T>C MANE Select NP_000742.1:p.Cys257Arg
NM_001311195.2:c.239-1264T>C NP_001298124.1:n.239-1264T>C
NM_001311196.2:c.466T>C NP_001298125.1:p.Cys156Arg
NM_001256657.2:c.724T>C NP_001243586.1:p.Cys242Arg
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