Canonical Allele Identifier: CA351005222

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534076-A-C
• MyVariant Identifiers: chr2:g.233398786A>C (hg19) ; chr2:g.232534076A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534076A>C , CM000664.2:g.232534076A>C	GRCh38
NC_000002.11:g.233398786A>C , CM000664.1:g.233398786A>C	GRCh37
NC_000002.10:g.233107030A>C	NCBI36
NG_008028.1:g.12865A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1193A>C MANE Select	ENSP00000258385.3:p.Asp398Ala
ENST00000258385.7:c.1193A>C	ENSP00000258385.3:p.Asp398Ala
ENST00000441621.6:c.*375A>C	ENSP00000408819.2:n.*375A>C
ENST00000446616.1:c.*834A>C	ENSP00000410801.1:n.*834A>C
ENST00000543200.5:c.1148A>C	ENSP00000438380.1:p.Asp383Ala
NM_000751.2:c.1193A>C	NP_000742.1:p.Asp398Ala
NM_001256657.1:c.1148A>C	NP_001243586.1:p.Asp383Ala
NM_001311195.1:c.611A>C	NP_001298124.1:p.Asp204Ala
NM_001311196.1:c.890A>C	NP_001298125.1:p.Asp297Ala
NR_046333.1:c.-4294966358A>C
NR_046334.1:c.-4294966079A>C
XM_011510524.1:c.812A>C	XP_011508826.1:p.Asp271Ala
XM_011510524.2:c.812A>C	XP_011508826.1:p.Asp271Ala
NM_000751.3:c.1193A>C MANE Select	NP_000742.1:p.Asp398Ala
NM_001311195.2:c.611A>C	NP_001298124.1:p.Asp204Ala
NM_001311196.2:c.890A>C	NP_001298125.1:p.Asp297Ala
NM_001256657.2:c.1148A>C	NP_001243586.1:p.Asp383Ala