Canonical Allele Identifier: CA351005145

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398750A>C (hg19) ; chr2:g.232534040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534040A>C , CM000664.2:g.232534040A>C	GRCh38
NC_000002.11:g.233398750A>C , CM000664.1:g.233398750A>C	GRCh37
NC_000002.10:g.233106994A>C	NCBI36
NG_008028.1:g.12829A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1157A>C MANE Select	ENSP00000258385.3:p.Lys386Thr
ENST00000258385.7:c.1157A>C	ENSP00000258385.3:p.Lys386Thr
ENST00000441621.6:c.*339A>C	ENSP00000408819.2:n.*339A>C
ENST00000446616.1:c.*798A>C	ENSP00000410801.1:n.*798A>C
ENST00000543200.5:c.1112A>C	ENSP00000438380.1:p.Lys371Thr
NM_000751.2:c.1157A>C	NP_000742.1:p.Lys386Thr
NM_001256657.1:c.1112A>C	NP_001243586.1:p.Lys371Thr
NM_001311195.1:c.575A>C	NP_001298124.1:p.Lys192Thr
NM_001311196.1:c.854A>C	NP_001298125.1:p.Lys285Thr
NR_046333.1:c.-4294966394A>C
NR_046334.1:c.-4294966115A>C
XM_011510524.1:c.776A>C	XP_011508826.1:p.Lys259Thr
XM_011510524.2:c.776A>C	XP_011508826.1:p.Lys259Thr
NM_000751.3:c.1157A>C MANE Select	NP_000742.1:p.Lys386Thr
NM_001311195.2:c.575A>C	NP_001298124.1:p.Lys192Thr
NM_001311196.2:c.854A>C	NP_001298125.1:p.Lys285Thr
NM_001256657.2:c.1112A>C	NP_001243586.1:p.Lys371Thr