Canonical Allele Identifier: CA351005512

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398960G>A (hg19) ; chr2:g.232534250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534250G>A , CM000664.2:g.232534250G>A	GRCh38
NC_000002.11:g.233398960G>A , CM000664.1:g.233398960G>A	GRCh37
NC_000002.10:g.233107204G>A	NCBI36
NG_008028.1:g.13039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1279G>A MANE Select	ENSP00000258385.3:p.Ala427Thr
ENST00000258385.7:c.1279G>A	ENSP00000258385.3:p.Ala427Thr
ENST00000441621.6:c.*461G>A	ENSP00000408819.2:n.*461G>A
ENST00000446616.1:c.*920G>A	ENSP00000410801.1:n.*920G>A
ENST00000543200.5:c.1234G>A	ENSP00000438380.1:p.Ala412Thr
NM_000751.2:c.1279G>A	NP_000742.1:p.Ala427Thr
NM_001256657.1:c.1234G>A	NP_001243586.1:p.Ala412Thr
NM_001311195.1:c.697G>A	NP_001298124.1:p.Ala233Thr
NM_001311196.1:c.976G>A	NP_001298125.1:p.Ala326Thr
NR_046333.1:c.-4294966272G>A
NR_046334.1:c.-4294965993G>A
XM_011510524.1:c.898G>A	XP_011508826.1:p.Ala300Thr
XM_011510524.2:c.898G>A	XP_011508826.1:p.Ala300Thr
NM_000751.3:c.1279G>A MANE Select	NP_000742.1:p.Ala427Thr
NM_001311195.2:c.697G>A	NP_001298124.1:p.Ala233Thr
NM_001311196.2:c.976G>A	NP_001298125.1:p.Ala326Thr
NM_001256657.2:c.1234G>A	NP_001243586.1:p.Ala412Thr