Canonical Allele Identifier: CA2168284

Gene: CHRND

Linked Data

• dbSNP Id: rs749461400
• ExAC: 2:233398787 C / T
• gnomAD v2: 2-233398787-C-T
• gnomAD v4: 2-232534077-C-T
• MyVariant Identifiers: chr2:g.233398787C>T (hg19) ; chr2:g.232534077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534077C>T , CM000664.2:g.232534077C>T	GRCh38
NC_000002.11:g.233398787C>T , CM000664.1:g.233398787C>T	GRCh37
NC_000002.10:g.233107031C>T	NCBI36
NG_008028.1:g.12866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1194C>T MANE Select	ENSP00000258385.3:p.Asp398=
ENST00000258385.7:c.1194C>T	ENSP00000258385.3:p.Asp398=
ENST00000441621.6:c.*376C>T	ENSP00000408819.2:n.*376C>T
ENST00000446616.1:c.*835C>T	ENSP00000410801.1:n.*835C>T
ENST00000543200.5:c.1149C>T	ENSP00000438380.1:p.Asp383=
NM_000751.2:c.1194C>T	NP_000742.1:p.Asp398=
NM_001256657.1:c.1149C>T	NP_001243586.1:p.Asp383=
NM_001311195.1:c.612C>T	NP_001298124.1:p.Asp204=
NM_001311196.1:c.891C>T	NP_001298125.1:p.Asp297=
NR_046333.1:c.-4294966357C>T
NR_046334.1:c.-4294966078C>T
XM_011510524.1:c.813C>T	XP_011508826.1:p.Asp271=
XM_011510524.2:c.813C>T	XP_011508826.1:p.Asp271=
NM_000751.3:c.1194C>T MANE Select	NP_000742.1:p.Asp398=
NM_001311195.2:c.612C>T	NP_001298124.1:p.Asp204=
NM_001311196.2:c.891C>T	NP_001298125.1:p.Asp297=
NM_001256657.2:c.1149C>T	NP_001243586.1:p.Asp383=