Canonical Allele Identifier: CA351005886

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399843A>C (hg19) ; chr2:g.232535133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535133A>C , CM000664.2:g.232535133A>C	GRCh38
NC_000002.11:g.233399843A>C , CM000664.1:g.233399843A>C	GRCh37
NC_000002.10:g.233108087A>C	NCBI36
NG_008028.1:g.13922A>C
NG_012954.1:g.407A>C
NG_012954.2:g.442A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1375A>C MANE Select	ENSP00000258385.3:p.Lys459Gln
ENST00000258385.7:c.1375A>C	ENSP00000258385.3:p.Lys459Gln
ENST00000441621.6:c.*557A>C	ENSP00000408819.2:n.*557A>C
ENST00000446616.1:c.*1016A>C	ENSP00000410801.1:n.*1016A>C
ENST00000543200.5:c.1330A>C	ENSP00000438380.1:p.Lys444Gln
NM_000751.2:c.1375A>C	NP_000742.1:p.Lys459Gln
NM_001256657.1:c.1330A>C	NP_001243586.1:p.Lys444Gln
NM_001311195.1:c.793A>C	NP_001298124.1:p.Lys265Gln
NM_001311196.1:c.1072A>C	NP_001298125.1:p.Lys358Gln
NR_046333.1:c.-4294966176A>C
NR_046334.1:c.-4294965897A>C
XM_011510524.1:c.994A>C	XP_011508826.1:p.Lys332Gln
XM_011510524.2:c.994A>C	XP_011508826.1:p.Lys332Gln
NM_000751.3:c.1375A>C MANE Select	NP_000742.1:p.Lys459Gln
NM_001311195.2:c.793A>C	NP_001298124.1:p.Lys265Gln
NM_001311196.2:c.1072A>C	NP_001298125.1:p.Lys358Gln
NM_001256657.2:c.1330A>C	NP_001243586.1:p.Lys444Gln