Canonical Allele Identifier: CA128062
Gene: CHRND HGNC NCBI

Linked Data

ClinVar Variation Id: 18363
ClinVar RCV Id: RCV000020031 RCV001218475
dbSNP Id: rs121909502
MyVariant Identifiers: chr2:g.233396107C>T (hg19) chr2:g.232531397C>T (hg38)
PubMed: PMID:11782989
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232531397C>T , CM000664.2:g.232531397C>T GRCh38
NC_000002.11:g.233396107C>T , CM000664.1:g.233396107C>T GRCh37
NC_000002.10:g.233104351C>T NCBI36
NG_008028.1:g.10186C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258385.8:c.866C>T MANE Select ENSP00000258385.3:p.Ser289Phe
ENST00000258385.7:c.866C>T ENSP00000258385.3:p.Ser289Phe
ENST00000412233.5:c.*39C>T ENSP00000398143.1:n.*39C>T
ENST00000441621.6:c.*48C>T ENSP00000408819.2:n.*48C>T
ENST00000446616.1:c.*507C>T ENSP00000410801.1:n.*507C>T
ENST00000543200.5:c.821C>T ENSP00000438380.1:p.Ser274Phe
NM_000751.2:c.866C>T NP_000742.1:p.Ser289Phe
NM_001256657.1:c.821C>T NP_001243586.1:p.Ser274Phe
NM_001311195.1:c.284C>T NP_001298124.1:p.Ser95Phe
NM_001311196.1:c.563C>T NP_001298125.1:p.Ser188Phe
NR_046333.1:c.-4294966685C>T
NR_046334.1:c.-4294966406C>T
XM_011510524.1:c.485C>T XP_011508826.1:p.Ser162Phe
XM_011510524.2:c.485C>T XP_011508826.1:p.Ser162Phe
NM_000751.3:c.866C>T MANE Select NP_000742.1:p.Ser289Phe
NM_001311195.2:c.284C>T NP_001298124.1:p.Ser95Phe
NM_001311196.2:c.563C>T NP_001298125.1:p.Ser188Phe
NM_001256657.2:c.821C>T NP_001243586.1:p.Ser274Phe
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