Canonical Allele Identifier: CA351005917

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399854G>C (hg19) ; chr2:g.232535144G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535144G>C , CM000664.2:g.232535144G>C	GRCh38
NC_000002.11:g.233399854G>C , CM000664.1:g.233399854G>C	GRCh37
NC_000002.10:g.233108098G>C	NCBI36
NG_008028.1:g.13933G>C
NG_012954.1:g.418G>C
NG_012954.2:g.453G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1386G>C MANE Select	ENSP00000258385.3:p.Trp462Cys
ENST00000258385.7:c.1386G>C	ENSP00000258385.3:p.Trp462Cys
ENST00000441621.6:c.*568G>C	ENSP00000408819.2:n.*568G>C
ENST00000446616.1:c.*1027G>C	ENSP00000410801.1:n.*1027G>C
ENST00000543200.5:c.1341G>C	ENSP00000438380.1:p.Trp447Cys
NM_000751.2:c.1386G>C	NP_000742.1:p.Trp462Cys
NM_001256657.1:c.1341G>C	NP_001243586.1:p.Trp447Cys
NM_001311195.1:c.804G>C	NP_001298124.1:p.Trp268Cys
NM_001311196.1:c.1083G>C	NP_001298125.1:p.Trp361Cys
NR_046333.1:c.-4294966165G>C
NR_046334.1:c.-4294965886G>C
XM_011510524.1:c.1005G>C	XP_011508826.1:p.Trp335Cys
XM_011510524.2:c.1005G>C	XP_011508826.1:p.Trp335Cys
NM_000751.3:c.1386G>C MANE Select	NP_000742.1:p.Trp462Cys
NM_001311195.2:c.804G>C	NP_001298124.1:p.Trp268Cys
NM_001311196.2:c.1083G>C	NP_001298125.1:p.Trp361Cys
NM_001256657.2:c.1341G>C	NP_001243586.1:p.Trp447Cys