Canonical Allele Identifier: CA2167926
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232526688C>T
GRCh37 chr2:g.233391398C>T
gnomAD v2:
2:233391398 C / T
gnomAD v3:
2:232526688 C / T
gnomAD v4:
chr2-232526688-C-T
Joint Max Group AF 0.00050424 (NFE)
Genomes Max Group AF 0.00046884 (NFE)
Exomes Max Group AF 0.00049825 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232526688C>T , CM000664.2:g.232526688C>T GRCh38
NC_000002.11:g.233391398C>T , CM000664.1:g.233391398C>T GRCh37
NC_000002.10:g.233099642C>T NCBI36
NG_008028.1:g.5477C>T
NG_031969.1:g.11226C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.198+14C>T MANE Select ENSP00000258385.3:n.198+14C>T
ENST00000258385.7:c.198+14C>T ENSP00000258385.3:n.198+14C>T
ENST00000412233.5:c.198+14C>T ENSP00000398143.1:n.198+14C>T
ENST00000441621.6:c.198+14C>T ENSP00000408819.2:n.198+14C>T
ENST00000446616.1:c.198+14C>T ENSP00000410801.1:n.198+14C>T
ENST00000449596.5:c.198+14C>T ENSP00000404950.1:n.198+14C>T
ENST00000543200.5:c.198+14C>T ENSP00000438380.1:n.198+14C>T
NM_000751.2:c.198+14C>T NP_000742.1:n.198+14C>T
NM_001256657.1:c.198+14C>T NP_001243586.1:n.198+14C>T
NM_001311195.1:c.-74+14C>T NP_001298124.1:n.-74+14C>T
NM_001311196.1:c.-74+14C>T NP_001298125.1:n.-74+14C>T
NR_046333.1:c.-4294967042+14C>T
NR_046334.1:c.-4294967042+14C>T
XM_011510524.1:c.-74+14C>T XP_011508826.1:n.-74+14C>T
XM_011510524.2:c.-74+14C>T XP_011508826.1:n.-74+14C>T
NM_000751.3:c.198+14C>T MANE Select NP_000742.1:n.198+14C>T
NM_001311195.2:c.-74+14C>T NP_001298124.1:n.-74+14C>T
NM_001311196.2:c.-74+14C>T NP_001298125.1:n.-74+14C>T
NM_001256657.2:c.198+14C>T NP_001243586.1:n.198+14C>T
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