Canonical Allele Identifier: CA2168318

Gene: CHRND

Linked Data

• dbSNP Id: rs780882716
• ExAC: 2:233398954 G / A
• gnomAD v2: 2-233398954-G-A
• gnomAD v4: 2-232534244-G-A
• MyVariant Identifiers: chr2:g.233398954G>A (hg19) ; chr2:g.232534244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534244G>A , CM000664.2:g.232534244G>A	GRCh38
NC_000002.11:g.233398954G>A , CM000664.1:g.233398954G>A	GRCh37
NC_000002.10:g.233107198G>A	NCBI36
NG_008028.1:g.13033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1273G>A MANE Select	ENSP00000258385.3:p.Glu425Lys
ENST00000258385.7:c.1273G>A	ENSP00000258385.3:p.Glu425Lys
ENST00000441621.6:c.*455G>A	ENSP00000408819.2:n.*455G>A
ENST00000446616.1:c.*914G>A	ENSP00000410801.1:n.*914G>A
ENST00000543200.5:c.1228G>A	ENSP00000438380.1:p.Glu410Lys
NM_000751.2:c.1273G>A	NP_000742.1:p.Glu425Lys
NM_001256657.1:c.1228G>A	NP_001243586.1:p.Glu410Lys
NM_001311195.1:c.691G>A	NP_001298124.1:p.Glu231Lys
NM_001311196.1:c.970G>A	NP_001298125.1:p.Glu324Lys
NR_046333.1:c.-4294966278G>A
NR_046334.1:c.-4294965999G>A
XM_011510524.1:c.892G>A	XP_011508826.1:p.Glu298Lys
XM_011510524.2:c.892G>A	XP_011508826.1:p.Glu298Lys
NM_000751.3:c.1273G>A MANE Select	NP_000742.1:p.Glu425Lys
NM_001311195.2:c.691G>A	NP_001298124.1:p.Glu231Lys
NM_001311196.2:c.970G>A	NP_001298125.1:p.Glu324Lys
NM_001256657.2:c.1228G>A	NP_001243586.1:p.Glu410Lys