Canonical Allele Identifier: CA351005269

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2337704
• ClinVar RCV Id: RCV002949968 ; RCV003396830
• dbSNP Id: rs1472536196
• gnomAD v2: 2-233398806-T-A
• gnomAD v4: 2-232534096-T-A
• MyVariant Identifiers: chr2:g.233398806T>A (hg19) ; chr2:g.232534096T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534096T>A , CM000664.2:g.232534096T>A	GRCh38
NC_000002.11:g.233398806T>A , CM000664.1:g.233398806T>A	GRCh37
NC_000002.10:g.233107050T>A	NCBI36
NG_008028.1:g.12885T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1213T>A MANE Select	ENSP00000258385.3:p.Ser405Thr
ENST00000258385.7:c.1213T>A	ENSP00000258385.3:p.Ser405Thr
ENST00000441621.6:c.*395T>A	ENSP00000408819.2:n.*395T>A
ENST00000446616.1:c.*854T>A	ENSP00000410801.1:n.*854T>A
ENST00000543200.5:c.1168T>A	ENSP00000438380.1:p.Ser390Thr
NM_000751.2:c.1213T>A	NP_000742.1:p.Ser405Thr
NM_001256657.1:c.1168T>A	NP_001243586.1:p.Ser390Thr
NM_001311195.1:c.631T>A	NP_001298124.1:p.Ser211Thr
NM_001311196.1:c.910T>A	NP_001298125.1:p.Ser304Thr
NR_046333.1:c.-4294966338T>A
NR_046334.1:c.-4294966059T>A
XM_011510524.1:c.832T>A	XP_011508826.1:p.Ser278Thr
XM_011510524.2:c.832T>A	XP_011508826.1:p.Ser278Thr
NM_000751.3:c.1213T>A MANE Select	NP_000742.1:p.Ser405Thr
NM_001311195.2:c.631T>A	NP_001298124.1:p.Ser211Thr
NM_001311196.2:c.910T>A	NP_001298125.1:p.Ser304Thr
NM_001256657.2:c.1168T>A	NP_001243586.1:p.Ser390Thr