Canonical Allele Identifier: CA351005531

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534254-A-G
• MyVariant Identifiers: chr2:g.233398964A>G (hg19) ; chr2:g.232534254A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534254A>G , CM000664.2:g.232534254A>G	GRCh38
NC_000002.11:g.233398964A>G , CM000664.1:g.233398964A>G	GRCh37
NC_000002.10:g.233107208A>G	NCBI36
NG_008028.1:g.13043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1283A>G MANE Select	ENSP00000258385.3:p.Gln428Arg
ENST00000258385.7:c.1283A>G	ENSP00000258385.3:p.Gln428Arg
ENST00000441621.6:c.*465A>G	ENSP00000408819.2:n.*465A>G
ENST00000446616.1:c.*924A>G	ENSP00000410801.1:n.*924A>G
ENST00000543200.5:c.1238A>G	ENSP00000438380.1:p.Gln413Arg
NM_000751.2:c.1283A>G	NP_000742.1:p.Gln428Arg
NM_001256657.1:c.1238A>G	NP_001243586.1:p.Gln413Arg
NM_001311195.1:c.701A>G	NP_001298124.1:p.Gln234Arg
NM_001311196.1:c.980A>G	NP_001298125.1:p.Gln327Arg
NR_046333.1:c.-4294966268A>G
NR_046334.1:c.-4294965989A>G
XM_011510524.1:c.902A>G	XP_011508826.1:p.Gln301Arg
XM_011510524.2:c.902A>G	XP_011508826.1:p.Gln301Arg
NM_000751.3:c.1283A>G MANE Select	NP_000742.1:p.Gln428Arg
NM_001311195.2:c.701A>G	NP_001298124.1:p.Gln234Arg
NM_001311196.2:c.980A>G	NP_001298125.1:p.Gln327Arg
NM_001256657.2:c.1238A>G	NP_001243586.1:p.Gln413Arg