Canonical Allele Identifier: CA2168332

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2998813
• ClinVar RCV Id: RCV003859460
• dbSNP Id: rs763720452
• ExAC: 2:233399069 T / C
• gnomAD v2: 2-233399069-T-C
• gnomAD v3: 2-232534359-T-C
• gnomAD v4: 2-232534359-T-C
• MyVariant Identifiers: chr2:g.233399069T>C (hg19) ; chr2:g.232534359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534359T>C , CM000664.2:g.232534359T>C	GRCh38
NC_000002.11:g.233399069T>C , CM000664.1:g.233399069T>C	GRCh37
NC_000002.10:g.233107313T>C	NCBI36
NG_008028.1:g.13148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1371+17T>C MANE Select	ENSP00000258385.3:n.1371+17T>C
ENST00000258385.7:c.1371+17T>C	ENSP00000258385.3:n.1371+17T>C
ENST00000441621.6:c.*553+17T>C	ENSP00000408819.2:n.*553+17T>C
ENST00000446616.1:c.*1012+17T>C	ENSP00000410801.1:n.*1012+17T>C
ENST00000543200.5:c.1326+17T>C	ENSP00000438380.1:n.1326+17T>C
NM_000751.2:c.1371+17T>C	NP_000742.1:n.1371+17T>C
NM_001256657.1:c.1326+17T>C	NP_001243586.1:n.1326+17T>C
NM_001311195.1:c.789+17T>C	NP_001298124.1:n.789+17T>C
NM_001311196.1:c.1068+17T>C	NP_001298125.1:n.1068+17T>C
NR_046333.1:c.-4294966180+17T>C
NR_046334.1:c.-4294965901+17T>C
XM_011510524.1:c.990+17T>C	XP_011508826.1:n.990+17T>C
XM_011510524.2:c.990+17T>C	XP_011508826.1:n.990+17T>C
NM_000751.3:c.1371+17T>C MANE Select	NP_000742.1:n.1371+17T>C
NM_001311195.2:c.789+17T>C	NP_001298124.1:n.789+17T>C
NM_001311196.2:c.1068+17T>C	NP_001298125.1:n.1068+17T>C
NM_001256657.2:c.1326+17T>C	NP_001243586.1:n.1326+17T>C