Canonical Allele Identifier: CA351005718

Gene: CHRND

Linked Data

• ClinVar Variation Id: 1302902
• ClinVar RCV Id: RCV001756401
• dbSNP Id: rs2106214738
• MyVariant Identifiers: chr2:g.233399009A>G (hg19) ; chr2:g.232534299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534299A>G , CM000664.2:g.232534299A>G	GRCh38
NC_000002.11:g.233399009A>G , CM000664.1:g.233399009A>G	GRCh37
NC_000002.10:g.233107253A>G	NCBI36
NG_008028.1:g.13088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1328A>G MANE Select	ENSP00000258385.3:p.Asn443Ser
ENST00000258385.7:c.1328A>G	ENSP00000258385.3:p.Asn443Ser
ENST00000441621.6:c.*510A>G	ENSP00000408819.2:n.*510A>G
ENST00000446616.1:c.*969A>G	ENSP00000410801.1:n.*969A>G
ENST00000543200.5:c.1283A>G	ENSP00000438380.1:p.Asn428Ser
NM_000751.2:c.1328A>G	NP_000742.1:p.Asn443Ser
NM_001256657.1:c.1283A>G	NP_001243586.1:p.Asn428Ser
NM_001311195.1:c.746A>G	NP_001298124.1:p.Asn249Ser
NM_001311196.1:c.1025A>G	NP_001298125.1:p.Asn342Ser
NR_046333.1:c.-4294966223A>G
NR_046334.1:c.-4294965944A>G
XM_011510524.1:c.947A>G	XP_011508826.1:p.Asn316Ser
XM_011510524.2:c.947A>G	XP_011508826.1:p.Asn316Ser
NM_000751.3:c.1328A>G MANE Select	NP_000742.1:p.Asn443Ser
NM_001311195.2:c.746A>G	NP_001298124.1:p.Asn249Ser
NM_001311196.2:c.1025A>G	NP_001298125.1:p.Asn342Ser
NM_001256657.2:c.1283A>G	NP_001243586.1:p.Asn428Ser