Canonical Allele Identifier: CA351005553

Gene: CHRND

Linked Data

• COSMIC: COSM5917564
• MyVariant Identifiers: chr2:g.233398969G>A (hg19) ; chr2:g.232534259G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534259G>A , CM000664.2:g.232534259G>A	GRCh38
NC_000002.11:g.233398969G>A , CM000664.1:g.233398969G>A	GRCh37
NC_000002.10:g.233107213G>A	NCBI36
NG_008028.1:g.13048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1288G>A MANE Select	ENSP00000258385.3:p.Glu430Lys
ENST00000258385.7:c.1288G>A	ENSP00000258385.3:p.Glu430Lys
ENST00000441621.6:c.*470G>A	ENSP00000408819.2:n.*470G>A
ENST00000446616.1:c.*929G>A	ENSP00000410801.1:n.*929G>A
ENST00000543200.5:c.1243G>A	ENSP00000438380.1:p.Glu415Lys
NM_000751.2:c.1288G>A	NP_000742.1:p.Glu430Lys
NM_001256657.1:c.1243G>A	NP_001243586.1:p.Glu415Lys
NM_001311195.1:c.706G>A	NP_001298124.1:p.Glu236Lys
NM_001311196.1:c.985G>A	NP_001298125.1:p.Glu329Lys
NR_046333.1:c.-4294966263G>A
NR_046334.1:c.-4294965984G>A
XM_011510524.1:c.907G>A	XP_011508826.1:p.Glu303Lys
XM_011510524.2:c.907G>A	XP_011508826.1:p.Glu303Lys
NM_000751.3:c.1288G>A MANE Select	NP_000742.1:p.Glu430Lys
NM_001311195.2:c.706G>A	NP_001298124.1:p.Glu236Lys
NM_001311196.2:c.985G>A	NP_001298125.1:p.Glu329Lys
NM_001256657.2:c.1243G>A	NP_001243586.1:p.Glu415Lys