Canonical Allele Identifier: CA431952529

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534029-A-G
• MyVariant Identifiers: chr2:g.233398739A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534029A>G , CM000664.2:g.232534029A>G	GRCh38
NC_000002.11:g.233398739A>G , CM000664.1:g.233398739A>G	GRCh37
NC_000002.10:g.233106983A>G	NCBI36
NG_008028.1:g.12818A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1146A>G MANE Select	ENSP00000258385.3:p.Gly382=
ENST00000258385.7:c.1146A>G	ENSP00000258385.3:p.Gly382=
ENST00000441621.6:c.*328A>G	ENSP00000408819.2:n.*328A>G
ENST00000446616.1:c.*787A>G	ENSP00000410801.1:n.*787A>G
ENST00000543200.5:c.1101A>G	ENSP00000438380.1:p.Gly367=
NM_000751.2:c.1146A>G	NP_000742.1:p.Gly382=
NM_001256657.1:c.1101A>G	NP_001243586.1:p.Gly367=
NM_001311195.1:c.564A>G	NP_001298124.1:p.Gly188=
NM_001311196.1:c.843A>G	NP_001298125.1:p.Gly281=
NR_046333.1:c.-4294966405A>G
NR_046334.1:c.-4294966126A>G
XM_011510524.1:c.765A>G	XP_011508826.1:p.Gly255=
XM_011510524.2:c.765A>G	XP_011508826.1:p.Gly255=
NM_000751.3:c.1146A>G MANE Select	NP_000742.1:p.Gly382=
NM_001311195.2:c.564A>G	NP_001298124.1:p.Gly188=
NM_001311196.2:c.843A>G	NP_001298125.1:p.Gly281=
NM_001256657.2:c.1101A>G	NP_001243586.1:p.Gly367=