Canonical Allele Identifier: CA351005705

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399006C>A (hg19) ; chr2:g.232534296C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534296C>A , CM000664.2:g.232534296C>A	GRCh38
NC_000002.11:g.233399006C>A , CM000664.1:g.233399006C>A	GRCh37
NC_000002.10:g.233107250C>A	NCBI36
NG_008028.1:g.13085C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1325C>A MANE Select	ENSP00000258385.3:p.Ala442Glu
ENST00000258385.7:c.1325C>A	ENSP00000258385.3:p.Ala442Glu
ENST00000441621.6:c.*507C>A	ENSP00000408819.2:n.*507C>A
ENST00000446616.1:c.*966C>A	ENSP00000410801.1:n.*966C>A
ENST00000543200.5:c.1280C>A	ENSP00000438380.1:p.Ala427Glu
NM_000751.2:c.1325C>A	NP_000742.1:p.Ala442Glu
NM_001256657.1:c.1280C>A	NP_001243586.1:p.Ala427Glu
NM_001311195.1:c.743C>A	NP_001298124.1:p.Ala248Glu
NM_001311196.1:c.1022C>A	NP_001298125.1:p.Ala341Glu
NR_046333.1:c.-4294966226C>A
NR_046334.1:c.-4294965947C>A
XM_011510524.1:c.944C>A	XP_011508826.1:p.Ala315Glu
XM_011510524.2:c.944C>A	XP_011508826.1:p.Ala315Glu
NM_000751.3:c.1325C>A MANE Select	NP_000742.1:p.Ala442Glu
NM_001311195.2:c.743C>A	NP_001298124.1:p.Ala248Glu
NM_001311196.2:c.1022C>A	NP_001298125.1:p.Ala341Glu
NM_001256657.2:c.1280C>A	NP_001243586.1:p.Ala427Glu