Canonical Allele Identifier: CA351005042

Gene: CHRND

Linked Data

• ClinVar Variation Id: 847481
• ClinVar RCV Id: RCV001051039
• dbSNP Id: rs1691800096
• MyVariant Identifiers: chr2:g.233398699C>G (hg19) ; chr2:g.232533989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232533989C>G , CM000664.2:g.232533989C>G	GRCh38
NC_000002.11:g.233398699C>G , CM000664.1:g.233398699C>G	GRCh37
NC_000002.10:g.233106943C>G	NCBI36
NG_008028.1:g.12778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1106C>G MANE Select	ENSP00000258385.3:p.Pro369Arg
ENST00000258385.7:c.1106C>G	ENSP00000258385.3:p.Pro369Arg
ENST00000441621.6:c.*288C>G	ENSP00000408819.2:n.*288C>G
ENST00000446616.1:c.*747C>G	ENSP00000410801.1:n.*747C>G
ENST00000543200.5:c.1061C>G	ENSP00000438380.1:p.Pro354Arg
NM_000751.2:c.1106C>G	NP_000742.1:p.Pro369Arg
NM_001256657.1:c.1061C>G	NP_001243586.1:p.Pro354Arg
NM_001311195.1:c.524C>G	NP_001298124.1:p.Pro175Arg
NM_001311196.1:c.803C>G	NP_001298125.1:p.Pro268Arg
NR_046333.1:c.-4294966445C>G
NR_046334.1:c.-4294966166C>G
XM_011510524.1:c.725C>G	XP_011508826.1:p.Pro242Arg
XM_011510524.2:c.725C>G	XP_011508826.1:p.Pro242Arg
NM_000751.3:c.1106C>G MANE Select	NP_000742.1:p.Pro369Arg
NM_001311195.2:c.524C>G	NP_001298124.1:p.Pro175Arg
NM_001311196.2:c.803C>G	NP_001298125.1:p.Pro268Arg
NM_001256657.2:c.1061C>G	NP_001243586.1:p.Pro354Arg