Canonical Allele Identifier: CA351005890

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399844A>G (hg19) ; chr2:g.232535134A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535134A>G , CM000664.2:g.232535134A>G	GRCh38
NC_000002.11:g.233399844A>G , CM000664.1:g.233399844A>G	GRCh37
NC_000002.10:g.233108088A>G	NCBI36
NG_008028.1:g.13923A>G
NG_012954.1:g.408A>G
NG_012954.2:g.443A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1376A>G MANE Select	ENSP00000258385.3:p.Lys459Arg
ENST00000258385.7:c.1376A>G	ENSP00000258385.3:p.Lys459Arg
ENST00000441621.6:c.*558A>G	ENSP00000408819.2:n.*558A>G
ENST00000446616.1:c.*1017A>G	ENSP00000410801.1:n.*1017A>G
ENST00000543200.5:c.1331A>G	ENSP00000438380.1:p.Lys444Arg
NM_000751.2:c.1376A>G	NP_000742.1:p.Lys459Arg
NM_001256657.1:c.1331A>G	NP_001243586.1:p.Lys444Arg
NM_001311195.1:c.794A>G	NP_001298124.1:p.Lys265Arg
NM_001311196.1:c.1073A>G	NP_001298125.1:p.Lys358Arg
NR_046333.1:c.-4294966175A>G
NR_046334.1:c.-4294965896A>G
XM_011510524.1:c.995A>G	XP_011508826.1:p.Lys332Arg
XM_011510524.2:c.995A>G	XP_011508826.1:p.Lys332Arg
NM_000751.3:c.1376A>G MANE Select	NP_000742.1:p.Lys459Arg
NM_001311195.2:c.794A>G	NP_001298124.1:p.Lys265Arg
NM_001311196.2:c.1073A>G	NP_001298125.1:p.Lys358Arg
NM_001256657.2:c.1331A>G	NP_001243586.1:p.Lys444Arg