Canonical Allele Identifier: CA351005247

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398797G>T (hg19) ; chr2:g.232534087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534087G>T , CM000664.2:g.232534087G>T	GRCh38
NC_000002.11:g.233398797G>T , CM000664.1:g.233398797G>T	GRCh37
NC_000002.10:g.233107041G>T	NCBI36
NG_008028.1:g.12876G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1204G>T MANE Select	ENSP00000258385.3:p.Glu402Ter
ENST00000258385.7:c.1204G>T	ENSP00000258385.3:p.Glu402Ter
ENST00000441621.6:c.*386G>T	ENSP00000408819.2:n.*386G>T
ENST00000446616.1:c.*845G>T	ENSP00000410801.1:n.*845G>T
ENST00000543200.5:c.1159G>T	ENSP00000438380.1:p.Glu387Ter
NM_000751.2:c.1204G>T	NP_000742.1:p.Glu402Ter
NM_001256657.1:c.1159G>T	NP_001243586.1:p.Glu387Ter
NM_001311195.1:c.622G>T	NP_001298124.1:p.Glu208Ter
NM_001311196.1:c.901G>T	NP_001298125.1:p.Glu301Ter
NR_046333.1:c.-4294966347G>T
NR_046334.1:c.-4294966068G>T
XM_011510524.1:c.823G>T	XP_011508826.1:p.Glu275Ter
XM_011510524.2:c.823G>T	XP_011508826.1:p.Glu275Ter
NM_000751.3:c.1204G>T MANE Select	NP_000742.1:p.Glu402Ter
NM_001311195.2:c.622G>T	NP_001298124.1:p.Glu208Ter
NM_001311196.2:c.901G>T	NP_001298125.1:p.Glu301Ter
NM_001256657.2:c.1159G>T	NP_001243586.1:p.Glu387Ter