Canonical Allele Identifier: CA2168298

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2778891
• ClinVar RCV Id: RCV003633770
• dbSNP Id: rs148415132
• ExAC: 2:233398845 C / T
• gnomAD v2: 2-233398845-C-T
• gnomAD v3: 2-232534135-C-T
• gnomAD v4: 2-232534135-C-T
• MyVariant Identifiers: chr2:g.233398845C>T (hg19) ; chr2:g.232534135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534135C>T , CM000664.2:g.232534135C>T	GRCh38
NC_000002.11:g.233398845C>T , CM000664.1:g.233398845C>T	GRCh37
NC_000002.10:g.233107089C>T	NCBI36
NG_008028.1:g.12924C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1252C>T MANE Select	ENSP00000258385.3:p.Arg418Cys
ENST00000258385.7:c.1252C>T	ENSP00000258385.3:p.Arg418Cys
ENST00000441621.6:c.*434C>T	ENSP00000408819.2:n.*434C>T
ENST00000446616.1:c.*893C>T	ENSP00000410801.1:n.*893C>T
ENST00000543200.5:c.1207C>T	ENSP00000438380.1:p.Arg403Cys
NM_000751.2:c.1252C>T	NP_000742.1:p.Arg418Cys
NM_001256657.1:c.1207C>T	NP_001243586.1:p.Arg403Cys
NM_001311195.1:c.670C>T	NP_001298124.1:p.Arg224Cys
NM_001311196.1:c.949C>T	NP_001298125.1:p.Arg317Cys
NR_046333.1:c.-4294966299C>T
NR_046334.1:c.-4294966020C>T
XM_011510524.1:c.871C>T	XP_011508826.1:p.Arg291Cys
XM_011510524.2:c.871C>T	XP_011508826.1:p.Arg291Cys
NM_000751.3:c.1252C>T MANE Select	NP_000742.1:p.Arg418Cys
NM_001311195.2:c.670C>T	NP_001298124.1:p.Arg224Cys
NM_001311196.2:c.949C>T	NP_001298125.1:p.Arg317Cys
NM_001256657.2:c.1207C>T	NP_001243586.1:p.Arg403Cys