Canonical Allele Identifier: CA351005860

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399050G>A (hg19) ; chr2:g.232534340G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534340G>A , CM000664.2:g.232534340G>A	GRCh38
NC_000002.11:g.233399050G>A , CM000664.1:g.233399050G>A	GRCh37
NC_000002.10:g.233107294G>A	NCBI36
NG_008028.1:g.13129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1369G>A MANE Select	ENSP00000258385.3:p.Glu457Lys
ENST00000258385.7:c.1369G>A	ENSP00000258385.3:p.Glu457Lys
ENST00000441621.6:c.*551G>A	ENSP00000408819.2:n.*551G>A
ENST00000446616.1:c.*1010G>A	ENSP00000410801.1:n.*1010G>A
ENST00000543200.5:c.1324G>A	ENSP00000438380.1:p.Glu442Lys
NM_000751.2:c.1369G>A	NP_000742.1:p.Glu457Lys
NM_001256657.1:c.1324G>A	NP_001243586.1:p.Glu442Lys
NM_001311195.1:c.787G>A	NP_001298124.1:p.Glu263Lys
NM_001311196.1:c.1066G>A	NP_001298125.1:p.Glu356Lys
NR_046333.1:c.-4294966182G>A
NR_046334.1:c.-4294965903G>A
XM_011510524.1:c.988G>A	XP_011508826.1:p.Glu330Lys
XM_011510524.2:c.988G>A	XP_011508826.1:p.Glu330Lys
NM_000751.3:c.1369G>A MANE Select	NP_000742.1:p.Glu457Lys
NM_001311195.2:c.787G>A	NP_001298124.1:p.Glu263Lys
NM_001311196.2:c.1066G>A	NP_001298125.1:p.Glu356Lys
NM_001256657.2:c.1324G>A	NP_001243586.1:p.Glu442Lys