Canonical Allele Identifier: CA658796206

Gene: CHRND

Linked Data

• ClinVar Variation Id: 524112
• ClinVar RCV Id: RCV000627608 ; RCV000812890
• dbSNP Id: rs1553575435
• MyVariant Identifiers: chr2:g.233399026_233399027del (hg19) ; chr2:g.232534316_232534317del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534316_232534317del , CM000664.2:g.232534316_232534317del	GRCh38
NC_000002.11:g.233399026_233399027del , CM000664.1:g.233399026_233399027del	GRCh37
NC_000002.10:g.233107270_233107271del	NCBI36
NG_008028.1:g.13105_13106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1345_1346del MANE Select	ENSP00000258385.3:p.Met449GlufsTer8
ENST00000258385.7:c.1345_1346del	ENSP00000258385.3:p.Met449GlufsTer8
ENST00000441621.6:c.*527_*528del	ENSP00000408819.2:n.*527_*528del
ENST00000446616.1:c.*986_*987del	ENSP00000410801.1:n.*986_*987del
ENST00000543200.5:c.1300_1301del	ENSP00000438380.1:p.Met434GlufsTer8
NM_000751.2:c.1345_1346del	NP_000742.1:p.Met449GlufsTer8
NM_001256657.1:c.1300_1301del	NP_001243586.1:p.Met434GlufsTer8
NM_001311195.1:c.763_764del	NP_001298124.1:p.Met255GlufsTer8
NM_001311196.1:c.1042_1043del	NP_001298125.1:p.Met348GlufsTer8
NR_046333.1:c.-4294966206_-4294966205del
NR_046334.1:c.-4294965927_-4294965926del
XM_011510524.1:c.964_965del	XP_011508826.1:p.Met322GlufsTer8
XM_011510524.2:c.964_965del	XP_011508826.1:p.Met322GlufsTer8
NM_000751.3:c.1345_1346del MANE Select	NP_000742.1:p.Met449GlufsTer8
NM_001311195.2:c.763_764del	NP_001298124.1:p.Met255GlufsTer8
NM_001311196.2:c.1042_1043del	NP_001298125.1:p.Met348GlufsTer8
NM_001256657.2:c.1300_1301del	NP_001243586.1:p.Met434GlufsTer8