Canonical Allele Identifier: CA431809129

Gene: CHRND

Linked Data

• MyVariant Identifiers: chr2:g.233399926C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535216C>A , CM000664.2:g.232535216C>A	GRCh38
NC_000002.11:g.233399926C>A , CM000664.1:g.233399926C>A	GRCh37
NC_000002.10:g.233108170C>A	NCBI36
NG_008028.1:g.14005C>A
NG_012954.1:g.490C>A
NG_012954.2:g.525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1458C>A MANE Select	ENSP00000258385.3:p.Ala486=
ENST00000258385.7:c.1458C>A	ENSP00000258385.3:p.Ala486=
ENST00000441621.6:c.*640C>A	ENSP00000408819.2:n.*640C>A
ENST00000446616.1:c.*1099C>A	ENSP00000410801.1:n.*1099C>A
ENST00000543200.5:c.1413C>A	ENSP00000438380.1:p.Ala471=
NM_000751.2:c.1458C>A	NP_000742.1:p.Ala486=
NM_001256657.1:c.1413C>A	NP_001243586.1:p.Ala471=
NM_001311195.1:c.876C>A	NP_001298124.1:p.Ala292=
NM_001311196.1:c.1155C>A	NP_001298125.1:p.Ala385=
NR_046333.1:c.-4294966093C>A
NR_046334.1:c.-4294965814C>A
XM_011510524.1:c.1077C>A	XP_011508826.1:p.Ala359=
XM_011510524.2:c.1077C>A	XP_011508826.1:p.Ala359=
NM_000751.3:c.1458C>A MANE Select	NP_000742.1:p.Ala486=
NM_001311195.2:c.876C>A	NP_001298124.1:p.Ala292=
NM_001311196.2:c.1155C>A	NP_001298125.1:p.Ala385=
NM_001256657.2:c.1413C>A	NP_001243586.1:p.Ala471=