Canonical Allele Identifier: CA351005550

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398968G>C (hg19) ; chr2:g.232534258G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534258G>C , CM000664.2:g.232534258G>C	GRCh38
NC_000002.11:g.233398968G>C , CM000664.1:g.233398968G>C	GRCh37
NC_000002.10:g.233107212G>C	NCBI36
NG_008028.1:g.13047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1287G>C MANE Select	ENSP00000258385.3:p.Gln429His
ENST00000258385.7:c.1287G>C	ENSP00000258385.3:p.Gln429His
ENST00000441621.6:c.*469G>C	ENSP00000408819.2:n.*469G>C
ENST00000446616.1:c.*928G>C	ENSP00000410801.1:n.*928G>C
ENST00000543200.5:c.1242G>C	ENSP00000438380.1:p.Gln414His
NM_000751.2:c.1287G>C	NP_000742.1:p.Gln429His
NM_001256657.1:c.1242G>C	NP_001243586.1:p.Gln414His
NM_001311195.1:c.705G>C	NP_001298124.1:p.Gln235His
NM_001311196.1:c.984G>C	NP_001298125.1:p.Gln328His
NR_046333.1:c.-4294966264G>C
NR_046334.1:c.-4294965985G>C
XM_011510524.1:c.906G>C	XP_011508826.1:p.Gln302His
XM_011510524.2:c.906G>C	XP_011508826.1:p.Gln302His
NM_000751.3:c.1287G>C MANE Select	NP_000742.1:p.Gln429His
NM_001311195.2:c.705G>C	NP_001298124.1:p.Gln235His
NM_001311196.2:c.984G>C	NP_001298125.1:p.Gln328His
NM_001256657.2:c.1242G>C	NP_001243586.1:p.Gln414His