Canonical Allele Identifier: CA2168005

Gene: CHRND

Linked Data

• dbSNP Id: rs748649626
• ExAC: 2:233393180 G / C
• gnomAD v2: 2-233393180-G-C
• gnomAD v4: 2-232528470-G-C
• MyVariant Identifiers: chr2:g.233393180G>C (hg19) ; chr2:g.232528470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528470G>C , CM000664.2:g.232528470G>C	GRCh38
NC_000002.11:g.233393180G>C , CM000664.1:g.233393180G>C	GRCh37
NC_000002.10:g.233101424G>C	NCBI36
NG_008028.1:g.7259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.354-31G>C MANE Select	ENSP00000258385.3:n.354-31G>C
ENST00000258385.7:c.354-31G>C	ENSP00000258385.3:n.354-31G>C
ENST00000412233.5:c.354-31G>C	ENSP00000398143.1:n.354-31G>C
ENST00000441621.6:c.354-31G>C	ENSP00000408819.2:n.354-31G>C
ENST00000446616.1:c.322-31G>C	ENSP00000410801.1:n.322-31G>C
ENST00000449596.5:c.309-31G>C	ENSP00000404950.1:n.309-31G>C
ENST00000543200.5:c.309-31G>C	ENSP00000438380.1:n.309-31G>C
NM_000751.2:c.354-31G>C	NP_000742.1:n.354-31G>C
NM_001256657.1:c.309-31G>C	NP_001243586.1:n.309-31G>C
NM_001311195.1:c.83-31G>C	NP_001298124.1:n.83-31G>C
NM_001311196.1:c.51-31G>C	NP_001298125.1:n.51-31G>C
NR_046333.1:c.-4294966886-31G>C
NR_046334.1:c.-4294966918-31G>C
XM_011510524.1:c.83-31G>C	XP_011508826.1:n.83-31G>C
XM_011510524.2:c.83-31G>C	XP_011508826.1:n.83-31G>C
NM_000751.3:c.354-31G>C MANE Select	NP_000742.1:n.354-31G>C
NM_001311195.2:c.83-31G>C	NP_001298124.1:n.83-31G>C
NM_001311196.2:c.51-31G>C	NP_001298125.1:n.51-31G>C
NM_001256657.2:c.309-31G>C	NP_001243586.1:n.309-31G>C