Canonical Allele Identifier: CA351005865

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399051A>C (hg19) ; chr2:g.232534341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534341A>C , CM000664.2:g.232534341A>C	GRCh38
NC_000002.11:g.233399051A>C , CM000664.1:g.233399051A>C	GRCh37
NC_000002.10:g.233107295A>C	NCBI36
NG_008028.1:g.13130A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1370A>C MANE Select	ENSP00000258385.3:p.Glu457Ala
ENST00000258385.7:c.1370A>C	ENSP00000258385.3:p.Glu457Ala
ENST00000441621.6:c.*552A>C	ENSP00000408819.2:n.*552A>C
ENST00000446616.1:c.*1011A>C	ENSP00000410801.1:n.*1011A>C
ENST00000543200.5:c.1325A>C	ENSP00000438380.1:p.Glu442Ala
NM_000751.2:c.1370A>C	NP_000742.1:p.Glu457Ala
NM_001256657.1:c.1325A>C	NP_001243586.1:p.Glu442Ala
NM_001311195.1:c.788A>C	NP_001298124.1:p.Glu263Ala
NM_001311196.1:c.1067A>C	NP_001298125.1:p.Glu356Ala
NR_046333.1:c.-4294966181A>C
NR_046334.1:c.-4294965902A>C
XM_011510524.1:c.989A>C	XP_011508826.1:p.Glu330Ala
XM_011510524.2:c.989A>C	XP_011508826.1:p.Glu330Ala
NM_000751.3:c.1370A>C MANE Select	NP_000742.1:p.Glu457Ala
NM_001311195.2:c.788A>C	NP_001298124.1:p.Glu263Ala
NM_001311196.2:c.1067A>C	NP_001298125.1:p.Glu356Ala
NM_001256657.2:c.1325A>C	NP_001243586.1:p.Glu442Ala