Canonical Allele Identifier: CA2168329

Gene: CHRND

Linked Data

• ClinVar Variation Id: 961771
• ClinVar RCV Id: RCV001235529 ; RCV001780171
• dbSNP Id: rs775837014
• ExAC: 2:233399046 CA / C
• gnomAD v2: 2-233399046-CA-C
• gnomAD v3: 2-232534336-CA-C
• gnomAD v4: 2-232534336-CA-C
• MyVariant Identifiers: chr2:g.233399047del (hg19) ; chr2:g.232534338del (hg38) ; chr2:g.232534337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534338del , CM000664.2:g.232534338del	GRCh38
NC_000002.11:g.233399048del , CM000664.1:g.233399048del	GRCh37
NC_000002.10:g.233107292del	NCBI36
NG_008028.1:g.13127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1367del MANE Select	ENSP00000258385.3:p.Asn456MetfsTer22
ENST00000258385.7:c.1367del	ENSP00000258385.3:p.Asn456MetfsTer22
ENST00000441621.6:c.*549del	ENSP00000408819.2:n.*549del
ENST00000446616.1:c.*1008del	ENSP00000410801.1:n.*1008del
ENST00000543200.5:c.1322del	ENSP00000438380.1:p.Asn441MetfsTer22
NM_000751.2:c.1367del	NP_000742.1:p.Asn456MetfsTer22
NM_001256657.1:c.1322del	NP_001243586.1:p.Asn441MetfsTer22
NM_001311195.1:c.785del	NP_001298124.1:p.Asn262MetfsTer22
NM_001311196.1:c.1064del	NP_001298125.1:p.Asn355MetfsTer22
NR_046333.1:c.-4294966184del
NR_046334.1:c.-4294965905del
XM_011510524.1:c.986del	XP_011508826.1:p.Asn329MetfsTer22
XM_011510524.2:c.986del	XP_011508826.1:p.Asn329MetfsTer22
NM_000751.3:c.1367del MANE Select	NP_000742.1:p.Asn456MetfsTer22
NM_001311195.2:c.785del	NP_001298124.1:p.Asn262MetfsTer22
NM_001311196.2:c.1064del	NP_001298125.1:p.Asn355MetfsTer22
NM_001256657.2:c.1322del	NP_001243586.1:p.Asn441MetfsTer22