Canonical Allele Identifier: CA351005079

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398719C>G (hg19) ; chr2:g.232534009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534009C>G , CM000664.2:g.232534009C>G	GRCh38
NC_000002.11:g.233398719C>G , CM000664.1:g.233398719C>G	GRCh37
NC_000002.10:g.233106963C>G	NCBI36
NG_008028.1:g.12798C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1126C>G MANE Select	ENSP00000258385.3:p.Arg376Gly
ENST00000258385.7:c.1126C>G	ENSP00000258385.3:p.Arg376Gly
ENST00000441621.6:c.*308C>G	ENSP00000408819.2:n.*308C>G
ENST00000446616.1:c.*767C>G	ENSP00000410801.1:n.*767C>G
ENST00000543200.5:c.1081C>G	ENSP00000438380.1:p.Arg361Gly
NM_000751.2:c.1126C>G	NP_000742.1:p.Arg376Gly
NM_001256657.1:c.1081C>G	NP_001243586.1:p.Arg361Gly
NM_001311195.1:c.544C>G	NP_001298124.1:p.Arg182Gly
NM_001311196.1:c.823C>G	NP_001298125.1:p.Arg275Gly
NR_046333.1:c.-4294966425C>G
NR_046334.1:c.-4294966146C>G
XM_011510524.1:c.745C>G	XP_011508826.1:p.Arg249Gly
XM_011510524.2:c.745C>G	XP_011508826.1:p.Arg249Gly
NM_000751.3:c.1126C>G MANE Select	NP_000742.1:p.Arg376Gly
NM_001311195.2:c.544C>G	NP_001298124.1:p.Arg182Gly
NM_001311196.2:c.823C>G	NP_001298125.1:p.Arg275Gly
NM_001256657.2:c.1081C>G	NP_001243586.1:p.Arg361Gly