Canonical Allele Identifier: CA2168324

Gene: CHRND

Linked Data

• ClinVar Variation Id: 953201
• ClinVar RCV Id: RCV001225459 ; RCV002227511 ; RCV003414021
• dbSNP Id: rs573680102
• ExAC: 2:233399015 T / C
• gnomAD v2: 2-233399015-T-C
• gnomAD v3: 2-232534305-T-C
• gnomAD v4: 2-232534305-T-C
• MyVariant Identifiers: chr2:g.233399015T>C (hg19) ; chr2:g.232534305T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534305T>C , CM000664.2:g.232534305T>C	GRCh38
NC_000002.11:g.233399015T>C , CM000664.1:g.233399015T>C	GRCh37
NC_000002.10:g.233107259T>C	NCBI36
NG_008028.1:g.13094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1334T>C MANE Select	ENSP00000258385.3:p.Ile445Thr
ENST00000258385.7:c.1334T>C	ENSP00000258385.3:p.Ile445Thr
ENST00000441621.6:c.*516T>C	ENSP00000408819.2:n.*516T>C
ENST00000446616.1:c.*975T>C	ENSP00000410801.1:n.*975T>C
ENST00000543200.5:c.1289T>C	ENSP00000438380.1:p.Ile430Thr
NM_000751.2:c.1334T>C	NP_000742.1:p.Ile445Thr
NM_001256657.1:c.1289T>C	NP_001243586.1:p.Ile430Thr
NM_001311195.1:c.752T>C	NP_001298124.1:p.Ile251Thr
NM_001311196.1:c.1031T>C	NP_001298125.1:p.Ile344Thr
NR_046333.1:c.-4294966217T>C
NR_046334.1:c.-4294965938T>C
XM_011510524.1:c.953T>C	XP_011508826.1:p.Ile318Thr
XM_011510524.2:c.953T>C	XP_011508826.1:p.Ile318Thr
NM_000751.3:c.1334T>C MANE Select	NP_000742.1:p.Ile445Thr
NM_001311195.2:c.752T>C	NP_001298124.1:p.Ile251Thr
NM_001311196.2:c.1031T>C	NP_001298125.1:p.Ile344Thr
NM_001256657.2:c.1289T>C	NP_001243586.1:p.Ile430Thr