Canonical Allele Identifier: CA431952574

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233398826C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534116C>A , CM000664.2:g.232534116C>A	GRCh38
NC_000002.11:g.233398826C>A , CM000664.1:g.233398826C>A	GRCh37
NC_000002.10:g.233107070C>A	NCBI36
NG_008028.1:g.12905C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1233C>A MANE Select	ENSP00000258385.3:p.Ala411=
ENST00000258385.7:c.1233C>A	ENSP00000258385.3:p.Ala411=
ENST00000441621.6:c.*415C>A	ENSP00000408819.2:n.*415C>A
ENST00000446616.1:c.*874C>A	ENSP00000410801.1:n.*874C>A
ENST00000543200.5:c.1188C>A	ENSP00000438380.1:p.Ala396=
NM_000751.2:c.1233C>A	NP_000742.1:p.Ala411=
NM_001256657.1:c.1188C>A	NP_001243586.1:p.Ala396=
NM_001311195.1:c.651C>A	NP_001298124.1:p.Ala217=
NM_001311196.1:c.930C>A	NP_001298125.1:p.Ala310=
NR_046333.1:c.-4294966318C>A
NR_046334.1:c.-4294966039C>A
XM_011510524.1:c.852C>A	XP_011508826.1:p.Ala284=
XM_011510524.2:c.852C>A	XP_011508826.1:p.Ala284=
NM_000751.3:c.1233C>A MANE Select	NP_000742.1:p.Ala411=
NM_001311195.2:c.651C>A	NP_001298124.1:p.Ala217=
NM_001311196.2:c.930C>A	NP_001298125.1:p.Ala310=
NM_001256657.2:c.1188C>A	NP_001243586.1:p.Ala396=