Canonical Allele Identifier: CA355013

Gene: CHRND

Linked Data

• ClinVar Variation Id: 242639
• ClinVar RCV Id: RCV000191950
• dbSNP Id: rs797044480
• MyVariant Identifiers: chr2:g.233391259G>T (hg19) ; chr2:g.232526549G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232526549G>T , CM000664.2:g.232526549G>T	GRCh38
NC_000002.11:g.233391259G>T , CM000664.1:g.233391259G>T	GRCh37
NC_000002.10:g.233099503G>T	NCBI36
NG_008028.1:g.5338G>T
NG_031969.1:g.11087G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.73G>T MANE Select	ENSP00000258385.3:p.Glu25Ter
ENST00000258385.7:c.73G>T	ENSP00000258385.3:p.Glu25Ter
ENST00000412233.5:c.73G>T	ENSP00000398143.1:p.Glu25Ter
ENST00000441621.6:c.73G>T	ENSP00000408819.2:p.Glu25Ter
ENST00000446616.1:c.73G>T	ENSP00000410801.1:p.Glu25Ter
ENST00000449596.5:c.73G>T	ENSP00000404950.1:p.Glu25Ter
ENST00000543200.5:c.73G>T	ENSP00000438380.1:p.Glu25Ter
NM_000751.2:c.73G>T	NP_000742.1:p.Glu25Ter
NM_001256657.1:c.73G>T	NP_001243586.1:p.Glu25Ter
NM_001311195.1:c.-199G>T	NP_001298124.1:n.-199G>T
NM_001311196.1:c.-199G>T	NP_001298125.1:n.-199G>T
NR_046333.1:c.-4294967167G>T
NR_046334.1:c.-4294967167G>T
XM_011510524.1:c.-199G>T	XP_011508826.1:n.-199G>T
XM_011510524.2:c.-199G>T	XP_011508826.1:n.-199G>T
NM_000751.3:c.73G>T MANE Select	NP_000742.1:p.Glu25Ter
NM_001311195.2:c.-199G>T	NP_001298124.1:n.-199G>T
NM_001311196.2:c.-199G>T	NP_001298125.1:n.-199G>T
NM_001256657.2:c.73G>T	NP_001243586.1:p.Glu25Ter