Canonical Allele Identifier: CA351005491

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534246-G-T
• MyVariant Identifiers: chr2:g.233398956G>T (hg19) ; chr2:g.232534246G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534246G>T , CM000664.2:g.232534246G>T	GRCh38
NC_000002.11:g.233398956G>T , CM000664.1:g.233398956G>T	GRCh37
NC_000002.10:g.233107200G>T	NCBI36
NG_008028.1:g.13035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1275G>T MANE Select	ENSP00000258385.3:p.Glu425Asp
ENST00000258385.7:c.1275G>T	ENSP00000258385.3:p.Glu425Asp
ENST00000441621.6:c.*457G>T	ENSP00000408819.2:n.*457G>T
ENST00000446616.1:c.*916G>T	ENSP00000410801.1:n.*916G>T
ENST00000543200.5:c.1230G>T	ENSP00000438380.1:p.Glu410Asp
NM_000751.2:c.1275G>T	NP_000742.1:p.Glu425Asp
NM_001256657.1:c.1230G>T	NP_001243586.1:p.Glu410Asp
NM_001311195.1:c.693G>T	NP_001298124.1:p.Glu231Asp
NM_001311196.1:c.972G>T	NP_001298125.1:p.Glu324Asp
NR_046333.1:c.-4294966276G>T
NR_046334.1:c.-4294965997G>T
XM_011510524.1:c.894G>T	XP_011508826.1:p.Glu298Asp
XM_011510524.2:c.894G>T	XP_011508826.1:p.Glu298Asp
NM_000751.3:c.1275G>T MANE Select	NP_000742.1:p.Glu425Asp
NM_001311195.2:c.693G>T	NP_001298124.1:p.Glu231Asp
NM_001311196.2:c.972G>T	NP_001298125.1:p.Glu324Asp
NM_001256657.2:c.1230G>T	NP_001243586.1:p.Glu410Asp