Canonical Allele Identifier: CA2168322

Gene: CHRND

Linked Data

• ClinVar Variation Id: 835938
• ClinVar RCV Id: RCV001036943 ; RCV004031012
• dbSNP Id: rs373747090
• ExAC: 2:233399000 A / T
• gnomAD v2: 2-233399000-A-T
• gnomAD v3: 2-232534290-A-T
• gnomAD v4: 2-232534290-A-T
• MyVariant Identifiers: chr2:g.233399000A>T (hg19) ; chr2:g.232534290A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534290A>T , CM000664.2:g.232534290A>T	GRCh38
NC_000002.11:g.233399000A>T , CM000664.1:g.233399000A>T	GRCh37
NC_000002.10:g.233107244A>T	NCBI36
NG_008028.1:g.13079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1319A>T MANE Select	ENSP00000258385.3:p.Asp440Val
ENST00000258385.7:c.1319A>T	ENSP00000258385.3:p.Asp440Val
ENST00000441621.6:c.*501A>T	ENSP00000408819.2:n.*501A>T
ENST00000446616.1:c.*960A>T	ENSP00000410801.1:n.*960A>T
ENST00000543200.5:c.1274A>T	ENSP00000438380.1:p.Asp425Val
NM_000751.2:c.1319A>T	NP_000742.1:p.Asp440Val
NM_001256657.1:c.1274A>T	NP_001243586.1:p.Asp425Val
NM_001311195.1:c.737A>T	NP_001298124.1:p.Asp246Val
NM_001311196.1:c.1016A>T	NP_001298125.1:p.Asp339Val
NR_046333.1:c.-4294966232A>T
NR_046334.1:c.-4294965953A>T
XM_011510524.1:c.938A>T	XP_011508826.1:p.Asp313Val
XM_011510524.2:c.938A>T	XP_011508826.1:p.Asp313Val
NM_000751.3:c.1319A>T MANE Select	NP_000742.1:p.Asp440Val
NM_001311195.2:c.737A>T	NP_001298124.1:p.Asp246Val
NM_001311196.2:c.1016A>T	NP_001298125.1:p.Asp339Val
NM_001256657.2:c.1274A>T	NP_001243586.1:p.Asp425Val