Canonical Allele Identifier: CA351006103

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399946T>C (hg19) ; chr2:g.232535236T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535236T>C , CM000664.2:g.232535236T>C	GRCh38
NC_000002.11:g.233399946T>C , CM000664.1:g.233399946T>C	GRCh37
NC_000002.10:g.233108190T>C	NCBI36
NG_008028.1:g.14025T>C
NG_012954.1:g.510T>C
NG_012954.2:g.545T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1478T>C MANE Select	ENSP00000258385.3:p.Val493Ala
ENST00000258385.7:c.1478T>C	ENSP00000258385.3:p.Val493Ala
ENST00000441621.6:c.*660T>C	ENSP00000408819.2:n.*660T>C
ENST00000446616.1:c.*1119T>C	ENSP00000410801.1:n.*1119T>C
ENST00000543200.5:c.1433T>C	ENSP00000438380.1:p.Val478Ala
NM_000751.2:c.1478T>C	NP_000742.1:p.Val493Ala
NM_001256657.1:c.1433T>C	NP_001243586.1:p.Val478Ala
NM_001311195.1:c.896T>C	NP_001298124.1:p.Val299Ala
NM_001311196.1:c.1175T>C	NP_001298125.1:p.Val392Ala
NR_046333.1:c.-4294966073T>C
NR_046334.1:c.-4294965794T>C
XM_011510524.1:c.1097T>C	XP_011508826.1:p.Val366Ala
XM_011510524.2:c.1097T>C	XP_011508826.1:p.Val366Ala
NM_000751.3:c.1478T>C MANE Select	NP_000742.1:p.Val493Ala
NM_001311195.2:c.896T>C	NP_001298124.1:p.Val299Ala
NM_001311196.2:c.1175T>C	NP_001298125.1:p.Val392Ala
NM_001256657.2:c.1433T>C	NP_001243586.1:p.Val478Ala