Canonical Allele Identifier: CA351005277

Gene: CHRND

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1217A>C MANE Select	ENSP00000258385.3:p.Glu406Ala
ENST00000258385.7:c.1217A>C	ENSP00000258385.3:p.Glu406Ala
ENST00000441621.6:c.*399A>C	ENSP00000408819.2:n.*399A>C
ENST00000446616.1:c.*858A>C	ENSP00000410801.1:n.*858A>C
ENST00000543200.5:c.1172A>C	ENSP00000438380.1:p.Glu391Ala
NM_000751.2:c.1217A>C	NP_000742.1:p.Glu406Ala
NM_001256657.1:c.1172A>C	NP_001243586.1:p.Glu391Ala
NM_001311195.1:c.635A>C	NP_001298124.1:p.Glu212Ala
NM_001311196.1:c.914A>C	NP_001298125.1:p.Glu305Ala
NR_046333.1:c.-4294966334A>C
NR_046334.1:c.-4294966055A>C
XM_011510524.1:c.836A>C	XP_011508826.1:p.Glu279Ala
XM_011510524.2:c.836A>C	XP_011508826.1:p.Glu279Ala
NM_000751.3:c.1217A>C MANE Select	NP_000742.1:p.Glu406Ala
NM_001311195.2:c.635A>C	NP_001298124.1:p.Glu212Ala
NM_001311196.2:c.914A>C	NP_001298125.1:p.Glu305Ala
NM_001256657.2:c.1172A>C	NP_001243586.1:p.Glu391Ala