Canonical Allele Identifier: CA2168291

Gene: CHRND

Linked Data

• ClinVar Variation Id: 1008543
• ClinVar RCV Id: RCV001305897
• dbSNP Id: rs766721840
• ExAC: 2:233398812 C / T
• gnomAD v2: 2-233398812-C-T
• gnomAD v4: 2-232534102-C-T
• COSMIC: COSM3049358
• MyVariant Identifiers: chr2:g.233398812C>T (hg19) ; chr2:g.232534102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534102C>T , CM000664.2:g.232534102C>T	GRCh38
NC_000002.11:g.233398812C>T , CM000664.1:g.233398812C>T	GRCh37
NC_000002.10:g.233107056C>T	NCBI36
NG_008028.1:g.12891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1219C>T MANE Select	ENSP00000258385.3:p.Arg407Trp
ENST00000258385.7:c.1219C>T	ENSP00000258385.3:p.Arg407Trp
ENST00000441621.6:c.*401C>T	ENSP00000408819.2:n.*401C>T
ENST00000446616.1:c.*860C>T	ENSP00000410801.1:n.*860C>T
ENST00000543200.5:c.1174C>T	ENSP00000438380.1:p.Arg392Trp
NM_000751.2:c.1219C>T	NP_000742.1:p.Arg407Trp
NM_001256657.1:c.1174C>T	NP_001243586.1:p.Arg392Trp
NM_001311195.1:c.637C>T	NP_001298124.1:p.Arg213Trp
NM_001311196.1:c.916C>T	NP_001298125.1:p.Arg306Trp
NR_046333.1:c.-4294966332C>T
NR_046334.1:c.-4294966053C>T
XM_011510524.1:c.838C>T	XP_011508826.1:p.Arg280Trp
XM_011510524.2:c.838C>T	XP_011508826.1:p.Arg280Trp
NM_000751.3:c.1219C>T MANE Select	NP_000742.1:p.Arg407Trp
NM_001311195.2:c.637C>T	NP_001298124.1:p.Arg213Trp
NM_001311196.2:c.916C>T	NP_001298125.1:p.Arg306Trp
NM_001256657.2:c.1174C>T	NP_001243586.1:p.Arg392Trp