Canonical Allele Identifier: CA351005725

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399010C>A (hg19) ; chr2:g.232534300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534300C>A , CM000664.2:g.232534300C>A	GRCh38
NC_000002.11:g.233399010C>A , CM000664.1:g.233399010C>A	GRCh37
NC_000002.10:g.233107254C>A	NCBI36
NG_008028.1:g.13089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1329C>A MANE Select	ENSP00000258385.3:p.Asn443Lys
ENST00000258385.7:c.1329C>A	ENSP00000258385.3:p.Asn443Lys
ENST00000441621.6:c.*511C>A	ENSP00000408819.2:n.*511C>A
ENST00000446616.1:c.*970C>A	ENSP00000410801.1:n.*970C>A
ENST00000543200.5:c.1284C>A	ENSP00000438380.1:p.Asn428Lys
NM_000751.2:c.1329C>A	NP_000742.1:p.Asn443Lys
NM_001256657.1:c.1284C>A	NP_001243586.1:p.Asn428Lys
NM_001311195.1:c.747C>A	NP_001298124.1:p.Asn249Lys
NM_001311196.1:c.1026C>A	NP_001298125.1:p.Asn342Lys
NR_046333.1:c.-4294966222C>A
NR_046334.1:c.-4294965943C>A
XM_011510524.1:c.948C>A	XP_011508826.1:p.Asn316Lys
XM_011510524.2:c.948C>A	XP_011508826.1:p.Asn316Lys
NM_000751.3:c.1329C>A MANE Select	NP_000742.1:p.Asn443Lys
NM_001311195.2:c.747C>A	NP_001298124.1:p.Asn249Lys
NM_001311196.2:c.1026C>A	NP_001298125.1:p.Asn342Lys
NM_001256657.2:c.1284C>A	NP_001243586.1:p.Asn428Lys