Canonical Allele Identifier: CA16043387
Gene: CHRND HGNC NCBI

Linked Data

dbSNP Id: rs1057518958
gnomAD v4: 2-232531352-GT-G
MyVariant Identifiers: chr2:g.233396063del (hg19) chr2:g.232531353del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531353del , CM000664.2:g.232531353del GRCh38
NC_000002.11:g.233396063del , CM000664.1:g.233396063del GRCh37
NC_000002.10:g.233104307del NCBI36
NG_008028.1:g.10142del

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.822del MANE Select ENSP00000258385.3:p.Ser274ArgfsTer?
ENST00000258385.7:c.822del ENSP00000258385.3:p.Ser274ArgfsTer?
ENST00000412233.5:c.511del ENSP00000398143.1:p.Trp171GlyfsTer?
ENST00000441621.6:c.*4del ENSP00000408819.2:n.*4del
ENST00000446616.1:c.*463del ENSP00000410801.1:n.*463del
ENST00000543200.5:c.777del ENSP00000438380.1:p.Ser259ArgfsTer?
NM_000751.2:c.822del NP_000742.1:p.Ser274ArgfsTer?
NM_001256657.1:c.777del NP_001243586.1:p.Ser259ArgfsTer?
NM_001311195.1:c.240del NP_001298124.1:p.Gly81ValfsTer?
NM_001311196.1:c.519del NP_001298125.1:p.Ser173ArgfsTer?
NR_046333.1:c.-4294966729del
NR_046334.1:c.-4294966450del
XM_011510524.1:c.441del XP_011508826.1:p.Ser147ArgfsTer?
XM_011510524.2:c.441del XP_011508826.1:p.Ser147ArgfsTer?
NM_000751.3:c.822del MANE Select NP_000742.1:p.Ser274ArgfsTer?
NM_001311195.2:c.240del NP_001298124.1:p.Gly81ValfsTer?
NM_001311196.2:c.519del NP_001298125.1:p.Ser173ArgfsTer?
NM_001256657.2:c.777del NP_001243586.1:p.Ser259ArgfsTer?
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