Canonical Allele Identifier: CA351005267

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398805G>C (hg19) ; chr2:g.232534095G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534095G>C , CM000664.2:g.232534095G>C	GRCh38
NC_000002.11:g.233398805G>C , CM000664.1:g.233398805G>C	GRCh37
NC_000002.10:g.233107049G>C	NCBI36
NG_008028.1:g.12884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1212G>C MANE Select	ENSP00000258385.3:p.Gln404His
ENST00000258385.7:c.1212G>C	ENSP00000258385.3:p.Gln404His
ENST00000441621.6:c.*394G>C	ENSP00000408819.2:n.*394G>C
ENST00000446616.1:c.*853G>C	ENSP00000410801.1:n.*853G>C
ENST00000543200.5:c.1167G>C	ENSP00000438380.1:p.Gln389His
NM_000751.2:c.1212G>C	NP_000742.1:p.Gln404His
NM_001256657.1:c.1167G>C	NP_001243586.1:p.Gln389His
NM_001311195.1:c.630G>C	NP_001298124.1:p.Gln210His
NM_001311196.1:c.909G>C	NP_001298125.1:p.Gln303His
NR_046333.1:c.-4294966339G>C
NR_046334.1:c.-4294966060G>C
XM_011510524.1:c.831G>C	XP_011508826.1:p.Gln277His
XM_011510524.2:c.831G>C	XP_011508826.1:p.Gln277His
NM_000751.3:c.1212G>C MANE Select	NP_000742.1:p.Gln404His
NM_001311195.2:c.630G>C	NP_001298124.1:p.Gln210His
NM_001311196.2:c.909G>C	NP_001298125.1:p.Gln303His
NM_001256657.2:c.1167G>C	NP_001243586.1:p.Gln389His