Canonical Allele Identifier: CA2168326

Gene: CHRND

Linked Data

• dbSNP Id: rs771427492
• ExAC: 2:233399033 A / G
• gnomAD v2: 2-233399033-A-G
• gnomAD v3: 2-232534323-A-G
• gnomAD v4: 2-232534323-A-G
• MyVariant Identifiers: chr2:g.233399033A>G (hg19) ; chr2:g.232534323A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534323A>G , CM000664.2:g.232534323A>G	GRCh38
NC_000002.11:g.233399033A>G , CM000664.1:g.233399033A>G	GRCh37
NC_000002.10:g.233107277A>G	NCBI36
NG_008028.1:g.13112A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1352A>G MANE Select	ENSP00000258385.3:p.Asp451Gly
ENST00000258385.7:c.1352A>G	ENSP00000258385.3:p.Asp451Gly
ENST00000441621.6:c.*534A>G	ENSP00000408819.2:n.*534A>G
ENST00000446616.1:c.*993A>G	ENSP00000410801.1:n.*993A>G
ENST00000543200.5:c.1307A>G	ENSP00000438380.1:p.Asp436Gly
NM_000751.2:c.1352A>G	NP_000742.1:p.Asp451Gly
NM_001256657.1:c.1307A>G	NP_001243586.1:p.Asp436Gly
NM_001311195.1:c.770A>G	NP_001298124.1:p.Asp257Gly
NM_001311196.1:c.1049A>G	NP_001298125.1:p.Asp350Gly
NR_046333.1:c.-4294966199A>G
NR_046334.1:c.-4294965920A>G
XM_011510524.1:c.971A>G	XP_011508826.1:p.Asp324Gly
XM_011510524.2:c.971A>G	XP_011508826.1:p.Asp324Gly
NM_000751.3:c.1352A>G MANE Select	NP_000742.1:p.Asp451Gly
NM_001311195.2:c.770A>G	NP_001298124.1:p.Asp257Gly
NM_001311196.2:c.1049A>G	NP_001298125.1:p.Asp350Gly
NM_001256657.2:c.1307A>G	NP_001243586.1:p.Asp436Gly