Canonical Allele Identifier: CA351005884

Gene: CHRND

Linked Data

• gnomAD v4: 2-232535132-G-T
• MyVariant Identifiers: chr2:g.233399842G>T (hg19) ; chr2:g.232535132G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535132G>T , CM000664.2:g.232535132G>T	GRCh38
NC_000002.11:g.233399842G>T , CM000664.1:g.233399842G>T	GRCh37
NC_000002.10:g.233108086G>T	NCBI36
NG_008028.1:g.13921G>T
NG_012954.1:g.406G>T
NG_012954.2:g.441G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1374G>T MANE Select	ENSP00000258385.3:p.Glu458Asp
ENST00000258385.7:c.1374G>T	ENSP00000258385.3:p.Glu458Asp
ENST00000441621.6:c.*556G>T	ENSP00000408819.2:n.*556G>T
ENST00000446616.1:c.*1015G>T	ENSP00000410801.1:n.*1015G>T
ENST00000543200.5:c.1329G>T	ENSP00000438380.1:p.Glu443Asp
NM_000751.2:c.1374G>T	NP_000742.1:p.Glu458Asp
NM_001256657.1:c.1329G>T	NP_001243586.1:p.Glu443Asp
NM_001311195.1:c.792G>T	NP_001298124.1:p.Glu264Asp
NM_001311196.1:c.1071G>T	NP_001298125.1:p.Glu357Asp
NR_046333.1:c.-4294966177G>T
NR_046334.1:c.-4294965898G>T
XM_011510524.1:c.993G>T	XP_011508826.1:p.Glu331Asp
XM_011510524.2:c.993G>T	XP_011508826.1:p.Glu331Asp
NM_000751.3:c.1374G>T MANE Select	NP_000742.1:p.Glu458Asp
NM_001311195.2:c.792G>T	NP_001298124.1:p.Glu264Asp
NM_001311196.2:c.1071G>T	NP_001298125.1:p.Glu357Asp
NM_001256657.2:c.1329G>T	NP_001243586.1:p.Glu443Asp