Canonical Allele Identifier: CA2168289

Gene: CHRND

Linked Data

• ClinVar Variation Id: 189817
• ClinVar RCV Id: RCV000170317 ; RCV001365568 ; RCV002227450 ; RCV002510806
• dbSNP Id: rs145955590
• ExAC: 2:233398797 G / A
• gnomAD v2: 2-233398797-G-A
• gnomAD v3: 2-232534087-G-A
• gnomAD v4: 2-232534087-G-A
• MyVariant Identifiers: chr2:g.233398797G>A (hg19) ; chr2:g.232534087G>A (hg38)
• PubMed: PMID:16916845

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534087G>A , CM000664.2:g.232534087G>A	GRCh38
NC_000002.11:g.233398797G>A , CM000664.1:g.233398797G>A	GRCh37
NC_000002.10:g.233107041G>A	NCBI36
NG_008028.1:g.12876G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1204G>A MANE Select	ENSP00000258385.3:p.Glu402Lys
ENST00000258385.7:c.1204G>A	ENSP00000258385.3:p.Glu402Lys
ENST00000441621.6:c.*386G>A	ENSP00000408819.2:n.*386G>A
ENST00000446616.1:c.*845G>A	ENSP00000410801.1:n.*845G>A
ENST00000543200.5:c.1159G>A	ENSP00000438380.1:p.Glu387Lys
NM_000751.2:c.1204G>A	NP_000742.1:p.Glu402Lys
NM_001256657.1:c.1159G>A	NP_001243586.1:p.Glu387Lys
NM_001311195.1:c.622G>A	NP_001298124.1:p.Glu208Lys
NM_001311196.1:c.901G>A	NP_001298125.1:p.Glu301Lys
NR_046333.1:c.-4294966347G>A
NR_046334.1:c.-4294966068G>A
XM_011510524.1:c.823G>A	XP_011508826.1:p.Glu275Lys
XM_011510524.2:c.823G>A	XP_011508826.1:p.Glu275Lys
NM_000751.3:c.1204G>A MANE Select	NP_000742.1:p.Glu402Lys
NM_001311195.2:c.622G>A	NP_001298124.1:p.Glu208Lys
NM_001311196.2:c.901G>A	NP_001298125.1:p.Glu301Lys
NM_001256657.2:c.1159G>A	NP_001243586.1:p.Glu387Lys