Canonical Allele Identifier: CA351005279

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534100-A-G
• MyVariant Identifiers: chr2:g.233398810A>G (hg19) ; chr2:g.232534100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534100A>G , CM000664.2:g.232534100A>G	GRCh38
NC_000002.11:g.233398810A>G , CM000664.1:g.233398810A>G	GRCh37
NC_000002.10:g.233107054A>G	NCBI36
NG_008028.1:g.12889A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1217A>G MANE Select	ENSP00000258385.3:p.Glu406Gly
ENST00000258385.7:c.1217A>G	ENSP00000258385.3:p.Glu406Gly
ENST00000441621.6:c.*399A>G	ENSP00000408819.2:n.*399A>G
ENST00000446616.1:c.*858A>G	ENSP00000410801.1:n.*858A>G
ENST00000543200.5:c.1172A>G	ENSP00000438380.1:p.Glu391Gly
NM_000751.2:c.1217A>G	NP_000742.1:p.Glu406Gly
NM_001256657.1:c.1172A>G	NP_001243586.1:p.Glu391Gly
NM_001311195.1:c.635A>G	NP_001298124.1:p.Glu212Gly
NM_001311196.1:c.914A>G	NP_001298125.1:p.Glu305Gly
NR_046333.1:c.-4294966334A>G
NR_046334.1:c.-4294966055A>G
XM_011510524.1:c.836A>G	XP_011508826.1:p.Glu279Gly
XM_011510524.2:c.836A>G	XP_011508826.1:p.Glu279Gly
NM_000751.3:c.1217A>G MANE Select	NP_000742.1:p.Glu406Gly
NM_001311195.2:c.635A>G	NP_001298124.1:p.Glu212Gly
NM_001311196.2:c.914A>G	NP_001298125.1:p.Glu305Gly
NM_001256657.2:c.1172A>G	NP_001243586.1:p.Glu391Gly