Canonical Allele Identifier: CA66957678

Gene: CHRND

Linked Data

• dbSNP Id: rs779145422
• gnomAD v3: 2-232534248-AG-A
• gnomAD v4: 2-232534248-AG-A
• MyVariant Identifiers: chr2:g.233398959del (hg19) ; chr2:g.232534249del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534250del , CM000664.2:g.232534250del	GRCh38
NC_000002.11:g.233398960del , CM000664.1:g.233398960del	GRCh37
NC_000002.10:g.233107204del	NCBI36
NG_008028.1:g.13039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1279del MANE Select	ENSP00000258385.3:p.Ala427ProfsTer9
ENST00000258385.7:c.1279del	ENSP00000258385.3:p.Ala427ProfsTer9
ENST00000441621.6:c.*461del	ENSP00000408819.2:n.*461del
ENST00000446616.1:c.*920del	ENSP00000410801.1:n.*920del
ENST00000543200.5:c.1234del	ENSP00000438380.1:p.Ala412ProfsTer9
NM_000751.2:c.1279del	NP_000742.1:p.Ala427ProfsTer9
NM_001256657.1:c.1234del	NP_001243586.1:p.Ala412ProfsTer9
NM_001311195.1:c.697del	NP_001298124.1:p.Ala233ProfsTer9
NM_001311196.1:c.976del	NP_001298125.1:p.Ala326ProfsTer9
NR_046333.1:c.-4294966272del
NR_046334.1:c.-4294965993del
XM_011510524.1:c.898del	XP_011508826.1:p.Ala300ProfsTer9
XM_011510524.2:c.898del	XP_011508826.1:p.Ala300ProfsTer9
NM_000751.3:c.1279del MANE Select	NP_000742.1:p.Ala427ProfsTer9
NM_001311195.2:c.697del	NP_001298124.1:p.Ala233ProfsTer9
NM_001311196.2:c.976del	NP_001298125.1:p.Ala326ProfsTer9
NM_001256657.2:c.1234del	NP_001243586.1:p.Ala412ProfsTer9