Canonical Allele Identifier: CA66957683

Gene: CHRND

Linked Data

• dbSNP Id: rs754007573
• MyVariant Identifiers: chr2:g.233398973T>A (hg19) ; chr2:g.232534263T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534263T>A , CM000664.2:g.232534263T>A	GRCh38
NC_000002.11:g.233398973T>A , CM000664.1:g.233398973T>A	GRCh37
NC_000002.10:g.233107217T>A	NCBI36
NG_008028.1:g.13052T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1292T>A MANE Select	ENSP00000258385.3:p.Leu431His
ENST00000258385.7:c.1292T>A	ENSP00000258385.3:p.Leu431His
ENST00000441621.6:c.*474T>A	ENSP00000408819.2:n.*474T>A
ENST00000446616.1:c.*933T>A	ENSP00000410801.1:n.*933T>A
ENST00000543200.5:c.1247T>A	ENSP00000438380.1:p.Leu416His
NM_000751.2:c.1292T>A	NP_000742.1:p.Leu431His
NM_001256657.1:c.1247T>A	NP_001243586.1:p.Leu416His
NM_001311195.1:c.710T>A	NP_001298124.1:p.Leu237His
NM_001311196.1:c.989T>A	NP_001298125.1:p.Leu330His
NR_046333.1:c.-4294966259T>A
NR_046334.1:c.-4294965980T>A
XM_011510524.1:c.911T>A	XP_011508826.1:p.Leu304His
XM_011510524.2:c.911T>A	XP_011508826.1:p.Leu304His
NM_000751.3:c.1292T>A MANE Select	NP_000742.1:p.Leu431His
NM_001311195.2:c.710T>A	NP_001298124.1:p.Leu237His
NM_001311196.2:c.989T>A	NP_001298125.1:p.Leu330His
NM_001256657.2:c.1247T>A	NP_001243586.1:p.Leu416His