Canonical Allele Identifier: CA351005738

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399013C>A (hg19) ; chr2:g.232534303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534303C>A , CM000664.2:g.232534303C>A	GRCh38
NC_000002.11:g.233399013C>A , CM000664.1:g.233399013C>A	GRCh37
NC_000002.10:g.233107257C>A	NCBI36
NG_008028.1:g.13092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1332C>A MANE Select	ENSP00000258385.3:p.Phe444Leu
ENST00000258385.7:c.1332C>A	ENSP00000258385.3:p.Phe444Leu
ENST00000441621.6:c.*514C>A	ENSP00000408819.2:n.*514C>A
ENST00000446616.1:c.*973C>A	ENSP00000410801.1:n.*973C>A
ENST00000543200.5:c.1287C>A	ENSP00000438380.1:p.Phe429Leu
NM_000751.2:c.1332C>A	NP_000742.1:p.Phe444Leu
NM_001256657.1:c.1287C>A	NP_001243586.1:p.Phe429Leu
NM_001311195.1:c.750C>A	NP_001298124.1:p.Phe250Leu
NM_001311196.1:c.1029C>A	NP_001298125.1:p.Phe343Leu
NR_046333.1:c.-4294966219C>A
NR_046334.1:c.-4294965940C>A
XM_011510524.1:c.951C>A	XP_011508826.1:p.Phe317Leu
XM_011510524.2:c.951C>A	XP_011508826.1:p.Phe317Leu
NM_000751.3:c.1332C>A MANE Select	NP_000742.1:p.Phe444Leu
NM_001311195.2:c.750C>A	NP_001298124.1:p.Phe250Leu
NM_001311196.2:c.1029C>A	NP_001298125.1:p.Phe343Leu
NM_001256657.2:c.1287C>A	NP_001243586.1:p.Phe429Leu