Canonical Allele Identifier: CA351005073

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398714T>G (hg19) ; chr2:g.232534004T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534004T>G , CM000664.2:g.232534004T>G	GRCh38
NC_000002.11:g.233398714T>G , CM000664.1:g.233398714T>G	GRCh37
NC_000002.10:g.233106958T>G	NCBI36
NG_008028.1:g.12793T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1121T>G MANE Select	ENSP00000258385.3:p.Leu374Arg
ENST00000258385.7:c.1121T>G	ENSP00000258385.3:p.Leu374Arg
ENST00000441621.6:c.*303T>G	ENSP00000408819.2:n.*303T>G
ENST00000446616.1:c.*762T>G	ENSP00000410801.1:n.*762T>G
ENST00000543200.5:c.1076T>G	ENSP00000438380.1:p.Leu359Arg
NM_000751.2:c.1121T>G	NP_000742.1:p.Leu374Arg
NM_001256657.1:c.1076T>G	NP_001243586.1:p.Leu359Arg
NM_001311195.1:c.539T>G	NP_001298124.1:p.Leu180Arg
NM_001311196.1:c.818T>G	NP_001298125.1:p.Leu273Arg
NR_046333.1:c.-4294966430T>G
NR_046334.1:c.-4294966151T>G
XM_011510524.1:c.740T>G	XP_011508826.1:p.Leu247Arg
XM_011510524.2:c.740T>G	XP_011508826.1:p.Leu247Arg
NM_000751.3:c.1121T>G MANE Select	NP_000742.1:p.Leu374Arg
NM_001311195.2:c.539T>G	NP_001298124.1:p.Leu180Arg
NM_001311196.2:c.818T>G	NP_001298125.1:p.Leu273Arg
NM_001256657.2:c.1076T>G	NP_001243586.1:p.Leu359Arg