Canonical Allele Identifier: CA350997459

Gene: CHRND

Linked Data

• ClinVar Variation Id: 1022451
• ClinVar RCV Id: RCV001322361
• dbSNP Id: rs1691557368
• MyVariant Identifiers: chr2:g.233393009A>G (hg19) ; chr2:g.232528299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528299A>G , CM000664.2:g.232528299A>G	GRCh38
NC_000002.11:g.233393009A>G , CM000664.1:g.233393009A>G	GRCh37
NC_000002.10:g.233101253A>G	NCBI36
NG_008028.1:g.7088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.281A>G MANE Select	ENSP00000258385.3:p.Glu94Gly
ENST00000258385.7:c.281A>G	ENSP00000258385.3:p.Glu94Gly
ENST00000412233.5:c.281A>G	ENSP00000398143.1:p.Glu94Gly
ENST00000441621.6:c.281A>G	ENSP00000408819.2:p.Glu94Gly
ENST00000446616.1:c.281A>G	ENSP00000410801.1:p.Glu94Gly
ENST00000449596.5:c.236A>G	ENSP00000404950.1:p.Glu79Gly
ENST00000543200.5:c.236A>G	ENSP00000438380.1:p.Glu79Gly
NM_000751.2:c.281A>G	NP_000742.1:p.Glu94Gly
NM_001256657.1:c.236A>G	NP_001243586.1:p.Glu79Gly
NM_001311195.1:c.10A>G	NP_001298124.1:p.Asn4Asp
NM_001311196.1:c.10A>G	NP_001298125.1:p.Asn4Asp
NR_046333.1:c.-4294966959A>G
NR_046334.1:c.-4294966959A>G
XM_011510524.1:c.10A>G	XP_011508826.1:p.Asn4Asp
XM_011510524.2:c.10A>G	XP_011508826.1:p.Asn4Asp
NM_000751.3:c.281A>G MANE Select	NP_000742.1:p.Glu94Gly
NM_001311195.2:c.10A>G	NP_001298124.1:p.Asn4Asp
NM_001311196.2:c.10A>G	NP_001298125.1:p.Asn4Asp
NM_001256657.2:c.236A>G	NP_001243586.1:p.Glu79Gly