Canonical Allele Identifier: CA2168214
Gene: CHRND HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.232531555G>A
GRCh37 chr2:g.233396265G>A
Revel Score:
ENST00000543200 0.441
ENST00000258385 (MANE Select) 0.441
ENST00000457943 0.441
gnomAD v2:
2:233396265 G / A
gnomAD v3:
2:232531555 G / A
gnomAD v4:
chr2-232531555-G-A
Joint Max Group AF 0.00081706 (AFR)
Genomes Max Group AF 0.00072627 (AFR)
Exomes Max Group AF 0.00077206 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531555G>A , CM000664.2:g.232531555G>A GRCh38
NC_000002.11:g.233396265G>A , CM000664.1:g.233396265G>A GRCh37
NC_000002.10:g.233104509G>A NCBI36
NG_008028.1:g.10344G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258385.8:c.946G>A MANE Select ENSP00000258385.3:p.Gly316Ser
ENST00000258385.7:c.946G>A ENSP00000258385.3:p.Gly316Ser
ENST00000412233.5:c.*119G>A ENSP00000398143.1:n.*119G>A
ENST00000441621.6:c.*128G>A ENSP00000408819.2:n.*128G>A
ENST00000446616.1:c.*587G>A ENSP00000410801.1:n.*587G>A
ENST00000543200.5:c.901G>A ENSP00000438380.1:p.Gly301Ser
NM_000751.2:c.946G>A NP_000742.1:p.Gly316Ser
NM_001256657.1:c.901G>A NP_001243586.1:p.Gly301Ser
NM_001311195.1:c.364G>A NP_001298124.1:p.Gly122Ser
NM_001311196.1:c.643G>A NP_001298125.1:p.Gly215Ser
NR_046333.1:c.-4294966605G>A
NR_046334.1:c.-4294966326G>A
XM_011510524.1:c.565G>A XP_011508826.1:p.Gly189Ser
XM_011510524.2:c.565G>A XP_011508826.1:p.Gly189Ser
NM_000751.3:c.946G>A MANE Select NP_000742.1:p.Gly316Ser
NM_001311195.2:c.364G>A NP_001298124.1:p.Gly122Ser
NM_001311196.2:c.643G>A NP_001298125.1:p.Gly215Ser
NM_001256657.2:c.901G>A NP_001243586.1:p.Gly301Ser
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