Canonical Allele Identifier: CA351005318

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534120-C-G
• MyVariant Identifiers: chr2:g.233398830C>G (hg19) ; chr2:g.232534120C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1237C>G MANE Select	ENSP00000258385.3:p.Arg413Gly
ENST00000258385.7:c.1237C>G	ENSP00000258385.3:p.Arg413Gly
ENST00000441621.6:c.*419C>G	ENSP00000408819.2:n.*419C>G
ENST00000446616.1:c.*878C>G	ENSP00000410801.1:n.*878C>G
ENST00000543200.5:c.1192C>G	ENSP00000438380.1:p.Arg398Gly
NM_000751.2:c.1237C>G	NP_000742.1:p.Arg413Gly
NM_001256657.1:c.1192C>G	NP_001243586.1:p.Arg398Gly
NM_001311195.1:c.655C>G	NP_001298124.1:p.Arg219Gly
NM_001311196.1:c.934C>G	NP_001298125.1:p.Arg312Gly
NR_046333.1:c.-4294966314C>G
NR_046334.1:c.-4294966035C>G
XM_011510524.1:c.856C>G	XP_011508826.1:p.Arg286Gly
XM_011510524.2:c.856C>G	XP_011508826.1:p.Arg286Gly
NM_000751.3:c.1237C>G MANE Select	NP_000742.1:p.Arg413Gly
NM_001311195.2:c.655C>G	NP_001298124.1:p.Arg219Gly
NM_001311196.2:c.934C>G	NP_001298125.1:p.Arg312Gly
NM_001256657.2:c.1192C>G	NP_001243586.1:p.Arg398Gly