Canonical Allele Identifier: CA351005327

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398834T>G (hg19) ; chr2:g.232534124T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534124T>G , CM000664.2:g.232534124T>G	GRCh38
NC_000002.11:g.233398834T>G , CM000664.1:g.233398834T>G	GRCh37
NC_000002.10:g.233107078T>G	NCBI36
NG_008028.1:g.12913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1241T>G MANE Select	ENSP00000258385.3:p.Leu414Arg
ENST00000258385.7:c.1241T>G	ENSP00000258385.3:p.Leu414Arg
ENST00000441621.6:c.*423T>G	ENSP00000408819.2:n.*423T>G
ENST00000446616.1:c.*882T>G	ENSP00000410801.1:n.*882T>G
ENST00000543200.5:c.1196T>G	ENSP00000438380.1:p.Leu399Arg
NM_000751.2:c.1241T>G	NP_000742.1:p.Leu414Arg
NM_001256657.1:c.1196T>G	NP_001243586.1:p.Leu399Arg
NM_001311195.1:c.659T>G	NP_001298124.1:p.Leu220Arg
NM_001311196.1:c.938T>G	NP_001298125.1:p.Leu313Arg
NR_046333.1:c.-4294966310T>G
NR_046334.1:c.-4294966031T>G
XM_011510524.1:c.860T>G	XP_011508826.1:p.Leu287Arg
XM_011510524.2:c.860T>G	XP_011508826.1:p.Leu287Arg
NM_000751.3:c.1241T>G MANE Select	NP_000742.1:p.Leu414Arg
NM_001311195.2:c.659T>G	NP_001298124.1:p.Leu220Arg
NM_001311196.2:c.938T>G	NP_001298125.1:p.Leu313Arg
NM_001256657.2:c.1196T>G	NP_001243586.1:p.Leu399Arg