Canonical Allele Identifier: CA351005521

Gene: CHRND

Linked Data

• dbSNP Id: rs1691811768
• MyVariant Identifiers: chr2:g.233398961C>T (hg19) ; chr2:g.232534251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534251C>T , CM000664.2:g.232534251C>T	GRCh38
NC_000002.11:g.233398961C>T , CM000664.1:g.233398961C>T	GRCh37
NC_000002.10:g.233107205C>T	NCBI36
NG_008028.1:g.13040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1280C>T MANE Select	ENSP00000258385.3:p.Ala427Val
ENST00000258385.7:c.1280C>T	ENSP00000258385.3:p.Ala427Val
ENST00000441621.6:c.*462C>T	ENSP00000408819.2:n.*462C>T
ENST00000446616.1:c.*921C>T	ENSP00000410801.1:n.*921C>T
ENST00000543200.5:c.1235C>T	ENSP00000438380.1:p.Ala412Val
NM_000751.2:c.1280C>T	NP_000742.1:p.Ala427Val
NM_001256657.1:c.1235C>T	NP_001243586.1:p.Ala412Val
NM_001311195.1:c.698C>T	NP_001298124.1:p.Ala233Val
NM_001311196.1:c.977C>T	NP_001298125.1:p.Ala326Val
NR_046333.1:c.-4294966271C>T
NR_046334.1:c.-4294965992C>T
XM_011510524.1:c.899C>T	XP_011508826.1:p.Ala300Val
XM_011510524.2:c.899C>T	XP_011508826.1:p.Ala300Val
NM_000751.3:c.1280C>T MANE Select	NP_000742.1:p.Ala427Val
NM_001311195.2:c.698C>T	NP_001298124.1:p.Ala233Val
NM_001311196.2:c.977C>T	NP_001298125.1:p.Ala326Val
NM_001256657.2:c.1235C>T	NP_001243586.1:p.Ala412Val