Canonical Allele Identifier: CA351005165

Gene: CHRND

Linked Data

• dbSNP Id: rs1407499481
• gnomAD v3: 2-232534050-G-C
• gnomAD v4: 2-232534050-G-C
• MyVariant Identifiers: chr2:g.233398760G>C (hg19) ; chr2:g.232534050G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534050G>C , CM000664.2:g.232534050G>C	GRCh38
NC_000002.11:g.233398760G>C , CM000664.1:g.233398760G>C	GRCh37
NC_000002.10:g.233107004G>C	NCBI36
NG_008028.1:g.12839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1167G>C MANE Select	ENSP00000258385.3:p.Glu389Asp
ENST00000258385.7:c.1167G>C	ENSP00000258385.3:p.Glu389Asp
ENST00000441621.6:c.*349G>C	ENSP00000408819.2:n.*349G>C
ENST00000446616.1:c.*808G>C	ENSP00000410801.1:n.*808G>C
ENST00000543200.5:c.1122G>C	ENSP00000438380.1:p.Glu374Asp
NM_000751.2:c.1167G>C	NP_000742.1:p.Glu389Asp
NM_001256657.1:c.1122G>C	NP_001243586.1:p.Glu374Asp
NM_001311195.1:c.585G>C	NP_001298124.1:p.Glu195Asp
NM_001311196.1:c.864G>C	NP_001298125.1:p.Glu288Asp
NR_046333.1:c.-4294966384G>C
NR_046334.1:c.-4294966105G>C
XM_011510524.1:c.786G>C	XP_011508826.1:p.Glu262Asp
XM_011510524.2:c.786G>C	XP_011508826.1:p.Glu262Asp
NM_000751.3:c.1167G>C MANE Select	NP_000742.1:p.Glu389Asp
NM_001311195.2:c.585G>C	NP_001298124.1:p.Glu195Asp
NM_001311196.2:c.864G>C	NP_001298125.1:p.Glu288Asp
NM_001256657.2:c.1122G>C	NP_001243586.1:p.Glu374Asp