Canonical Allele Identifier: CA351005900

Gene: CHRND

Linked Data

• gnomAD v4: 2-232535138-C-G
• MyVariant Identifiers: chr2:g.233399848C>G (hg19) ; chr2:g.232535138C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232535138C>G , CM000664.2:g.232535138C>G	GRCh38
NC_000002.11:g.233399848C>G , CM000664.1:g.233399848C>G	GRCh37
NC_000002.10:g.233108092C>G	NCBI36
NG_008028.1:g.13927C>G
NG_012954.1:g.412C>G
NG_012954.2:g.447C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258385.8:c.1380C>G MANE Select	ENSP00000258385.3:p.Asp460Glu
ENST00000258385.7:c.1380C>G	ENSP00000258385.3:p.Asp460Glu
ENST00000441621.6:c.*562C>G	ENSP00000408819.2:n.*562C>G
ENST00000446616.1:c.*1021C>G	ENSP00000410801.1:n.*1021C>G
ENST00000543200.5:c.1335C>G	ENSP00000438380.1:p.Asp445Glu
NM_000751.2:c.1380C>G	NP_000742.1:p.Asp460Glu
NM_001256657.1:c.1335C>G	NP_001243586.1:p.Asp445Glu
NM_001311195.1:c.798C>G	NP_001298124.1:p.Asp266Glu
NM_001311196.1:c.1077C>G	NP_001298125.1:p.Asp359Glu
NR_046333.1:c.-4294966171C>G
NR_046334.1:c.-4294965892C>G
XM_011510524.1:c.999C>G	XP_011508826.1:p.Asp333Glu
XM_011510524.2:c.999C>G	XP_011508826.1:p.Asp333Glu
NM_000751.3:c.1380C>G MANE Select	NP_000742.1:p.Asp460Glu
NM_001311195.2:c.798C>G	NP_001298124.1:p.Asp266Glu
NM_001311196.2:c.1077C>G	NP_001298125.1:p.Asp359Glu
NM_001256657.2:c.1335C>G	NP_001243586.1:p.Asp445Glu