Canonical Allele Identifier: CA351005526

Gene: CHRND

Linked Data

• dbSNP Id: rs1464697871
• gnomAD v2: 2-233398963-C-A
• gnomAD v4: 2-232534253-C-A
• MyVariant Identifiers: chr2:g.233398963C>A (hg19) ; chr2:g.232534253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534253C>A , CM000664.2:g.232534253C>A	GRCh38
NC_000002.11:g.233398963C>A , CM000664.1:g.233398963C>A	GRCh37
NC_000002.10:g.233107207C>A	NCBI36
NG_008028.1:g.13042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1282C>A MANE Select	ENSP00000258385.3:p.Gln428Lys
ENST00000258385.7:c.1282C>A	ENSP00000258385.3:p.Gln428Lys
ENST00000441621.6:c.*464C>A	ENSP00000408819.2:n.*464C>A
ENST00000446616.1:c.*923C>A	ENSP00000410801.1:n.*923C>A
ENST00000543200.5:c.1237C>A	ENSP00000438380.1:p.Gln413Lys
NM_000751.2:c.1282C>A	NP_000742.1:p.Gln428Lys
NM_001256657.1:c.1237C>A	NP_001243586.1:p.Gln413Lys
NM_001311195.1:c.700C>A	NP_001298124.1:p.Gln234Lys
NM_001311196.1:c.979C>A	NP_001298125.1:p.Gln327Lys
NR_046333.1:c.-4294966269C>A
NR_046334.1:c.-4294965990C>A
XM_011510524.1:c.901C>A	XP_011508826.1:p.Gln301Lys
XM_011510524.2:c.901C>A	XP_011508826.1:p.Gln301Lys
NM_000751.3:c.1282C>A MANE Select	NP_000742.1:p.Gln428Lys
NM_001311195.2:c.700C>A	NP_001298124.1:p.Gln234Lys
NM_001311196.2:c.979C>A	NP_001298125.1:p.Gln327Lys
NM_001256657.2:c.1237C>A	NP_001243586.1:p.Gln413Lys