Canonical Allele Identifier: CA351005319

Gene: CHRND

Linked Data

• ClinVar Variation Id: 534531
• ClinVar RCV Id: RCV000642116
• dbSNP Id: rs1242056715
• gnomAD v4: 2-232534120-C-A
• MyVariant Identifiers: chr2:g.233398830C>A (hg19) ; chr2:g.232534120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534120C>A , CM000664.2:g.232534120C>A	GRCh38
NC_000002.11:g.233398830C>A , CM000664.1:g.233398830C>A	GRCh37
NC_000002.10:g.233107074C>A	NCBI36
NG_008028.1:g.12909C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1237C>A MANE Select	ENSP00000258385.3:p.Arg413Ser
ENST00000258385.7:c.1237C>A	ENSP00000258385.3:p.Arg413Ser
ENST00000441621.6:c.*419C>A	ENSP00000408819.2:n.*419C>A
ENST00000446616.1:c.*878C>A	ENSP00000410801.1:n.*878C>A
ENST00000543200.5:c.1192C>A	ENSP00000438380.1:p.Arg398Ser
NM_000751.2:c.1237C>A	NP_000742.1:p.Arg413Ser
NM_001256657.1:c.1192C>A	NP_001243586.1:p.Arg398Ser
NM_001311195.1:c.655C>A	NP_001298124.1:p.Arg219Ser
NM_001311196.1:c.934C>A	NP_001298125.1:p.Arg312Ser
NR_046333.1:c.-4294966314C>A
NR_046334.1:c.-4294966035C>A
XM_011510524.1:c.856C>A	XP_011508826.1:p.Arg286Ser
XM_011510524.2:c.856C>A	XP_011508826.1:p.Arg286Ser
NM_000751.3:c.1237C>A MANE Select	NP_000742.1:p.Arg413Ser
NM_001311195.2:c.655C>A	NP_001298124.1:p.Arg219Ser
NM_001311196.2:c.934C>A	NP_001298125.1:p.Arg312Ser
NM_001256657.2:c.1192C>A	NP_001243586.1:p.Arg398Ser