Canonical Allele Identifier: CA351005159

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398758G>C (hg19) ; chr2:g.232534048G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534048G>C , CM000664.2:g.232534048G>C	GRCh38
NC_000002.11:g.233398758G>C , CM000664.1:g.233398758G>C	GRCh37
NC_000002.10:g.233107002G>C	NCBI36
NG_008028.1:g.12837G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1165G>C MANE Select	ENSP00000258385.3:p.Glu389Gln
ENST00000258385.7:c.1165G>C	ENSP00000258385.3:p.Glu389Gln
ENST00000441621.6:c.*347G>C	ENSP00000408819.2:n.*347G>C
ENST00000446616.1:c.*806G>C	ENSP00000410801.1:n.*806G>C
ENST00000543200.5:c.1120G>C	ENSP00000438380.1:p.Glu374Gln
NM_000751.2:c.1165G>C	NP_000742.1:p.Glu389Gln
NM_001256657.1:c.1120G>C	NP_001243586.1:p.Glu374Gln
NM_001311195.1:c.583G>C	NP_001298124.1:p.Glu195Gln
NM_001311196.1:c.862G>C	NP_001298125.1:p.Glu288Gln
NR_046333.1:c.-4294966386G>C
NR_046334.1:c.-4294966107G>C
XM_011510524.1:c.784G>C	XP_011508826.1:p.Glu262Gln
XM_011510524.2:c.784G>C	XP_011508826.1:p.Glu262Gln
NM_000751.3:c.1165G>C MANE Select	NP_000742.1:p.Glu389Gln
NM_001311195.2:c.583G>C	NP_001298124.1:p.Glu195Gln
NM_001311196.2:c.862G>C	NP_001298125.1:p.Glu288Gln
NM_001256657.2:c.1120G>C	NP_001243586.1:p.Glu374Gln