Canonical Allele Identifier: CA350997383

Gene: CHRND

Linked Data

• ClinVar Variation Id: 1324077
• ClinVar RCV Id: RCV002227557 ; RCV002541179
• dbSNP Id: rs2106208285
• MyVariant Identifiers: chr2:g.233392976G>A (hg19) ; chr2:g.232528266G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528266G>A , CM000664.2:g.232528266G>A	GRCh38
NC_000002.11:g.233392976G>A , CM000664.1:g.233392976G>A	GRCh37
NC_000002.10:g.233101220G>A	NCBI36
NG_008028.1:g.7055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.248G>A MANE Select	ENSP00000258385.3:p.Trp83Ter
ENST00000258385.7:c.248G>A	ENSP00000258385.3:p.Trp83Ter
ENST00000412233.5:c.248G>A	ENSP00000398143.1:p.Trp83Ter
ENST00000441621.6:c.248G>A	ENSP00000408819.2:p.Trp83Ter
ENST00000446616.1:c.248G>A	ENSP00000410801.1:p.Trp83Ter
ENST00000449596.5:c.203G>A	ENSP00000404950.1:p.Trp68Ter
ENST00000543200.5:c.203G>A	ENSP00000438380.1:p.Trp68Ter
NM_000751.2:c.248G>A	NP_000742.1:p.Trp83Ter
NM_001256657.1:c.203G>A	NP_001243586.1:p.Trp68Ter
NM_001311195.1:c.-24G>A	NP_001298124.1:n.-24G>A
NM_001311196.1:c.-24G>A	NP_001298125.1:n.-24G>A
NR_046333.1:c.-4294966992G>A
NR_046334.1:c.-4294966992G>A
XM_011510524.1:c.-24G>A	XP_011508826.1:n.-24G>A
XM_011510524.2:c.-24G>A	XP_011508826.1:n.-24G>A
NM_000751.3:c.248G>A MANE Select	NP_000742.1:p.Trp83Ter
NM_001311195.2:c.-24G>A	NP_001298124.1:n.-24G>A
NM_001311196.2:c.-24G>A	NP_001298125.1:n.-24G>A
NM_001256657.2:c.203G>A	NP_001243586.1:p.Trp68Ter