Canonical Allele Identifier: CA350997452

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233393006A>T (hg19) ; chr2:g.232528296A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232528296A>T , CM000664.2:g.232528296A>T	GRCh38
NC_000002.11:g.233393006A>T , CM000664.1:g.233393006A>T	GRCh37
NC_000002.10:g.233101250A>T	NCBI36
NG_008028.1:g.7085A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.278A>T MANE Select	ENSP00000258385.3:p.Glu93Val
ENST00000258385.7:c.278A>T	ENSP00000258385.3:p.Glu93Val
ENST00000412233.5:c.278A>T	ENSP00000398143.1:p.Glu93Val
ENST00000441621.6:c.278A>T	ENSP00000408819.2:p.Glu93Val
ENST00000446616.1:c.278A>T	ENSP00000410801.1:p.Glu93Val
ENST00000449596.5:c.233A>T	ENSP00000404950.1:p.Glu78Val
ENST00000543200.5:c.233A>T	ENSP00000438380.1:p.Glu78Val
NM_000751.2:c.278A>T	NP_000742.1:p.Glu93Val
NM_001256657.1:c.233A>T	NP_001243586.1:p.Glu78Val
NM_001311195.1:c.7A>T	NP_001298124.1:p.Lys3Ter
NM_001311196.1:c.7A>T	NP_001298125.1:p.Lys3Ter
NR_046333.1:c.-4294966962A>T
NR_046334.1:c.-4294966962A>T
XM_011510524.1:c.7A>T	XP_011508826.1:p.Lys3Ter
XM_011510524.2:c.7A>T	XP_011508826.1:p.Lys3Ter
NM_000751.3:c.278A>T MANE Select	NP_000742.1:p.Glu93Val
NM_001311195.2:c.7A>T	NP_001298124.1:p.Lys3Ter
NM_001311196.2:c.7A>T	NP_001298125.1:p.Lys3Ter
NM_001256657.2:c.233A>T	NP_001243586.1:p.Glu78Val