Canonical Allele Identifier: CA2168447

Gene: CHRND

Linked Data

• ClinVar Variation Id: 334991
• ClinVar RCV Id: RCV001691958
• dbSNP Id: rs1004175
• ExAC: 2:233400907 T / C
• gnomAD v2: 2-233400907-T-C
• gnomAD v3: 2-232536197-T-C
• gnomAD v4: 2-232536197-T-C
• MyVariant Identifiers: chr2:g.233400907T>C (hg19) ; chr2:g.232536197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232536197T>C , CM000664.2:g.232536197T>C	GRCh38
NC_000002.11:g.233400907T>C , CM000664.1:g.233400907T>C	GRCh37
NC_000002.10:g.233109151T>C	NCBI36
NG_008028.1:g.14986T>C
NG_012954.1:g.1471T>C
NG_012954.2:g.1506T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.*885T>C MANE Select	ENSP00000258385.3:n.*885T>C
ENST00000441621.6:c.*1621T>C	ENSP00000408819.2:n.*1621T>C
ENST00000543200.5:c.*885T>C	ENSP00000438380.1:n.*885T>C
NM_000751.2:c.*885T>C	NP_000742.1:n.*885T>C
NM_001256657.1:c.*885T>C	NP_001243586.1:n.*885T>C
NM_001311195.1:c.*885T>C	NP_001298124.1:n.*885T>C
NM_001311196.1:c.*885T>C	NP_001298125.1:n.*885T>C
NR_046333.1:c.-4294965112T>C
NR_046334.1:c.-4294964833T>C
XM_011510524.1:c.*885T>C	XP_011508826.1:n.*885T>C
XM_011510524.2:c.*885T>C	XP_011508826.1:n.*885T>C
NM_000751.3:c.*885T>C MANE Select	NP_000742.1:n.*885T>C
NM_001311195.2:c.*885T>C	NP_001298124.1:n.*885T>C
NM_001311196.2:c.*885T>C	NP_001298125.1:n.*885T>C
NM_001256657.2:c.*885T>C	NP_001243586.1:n.*885T>C