Canonical Allele Identifier: CA351005757

Gene: CHRND

Linked Data

• gnomAD v4: 2-232534306-T-G
• MyVariant Identifiers: chr2:g.233399016T>G (hg19) ; chr2:g.232534306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534306T>G , CM000664.2:g.232534306T>G	GRCh38
NC_000002.11:g.233399016T>G , CM000664.1:g.233399016T>G	GRCh37
NC_000002.10:g.233107260T>G	NCBI36
NG_008028.1:g.13095T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1335T>G MANE Select	ENSP00000258385.3:p.Ile445Met
ENST00000258385.7:c.1335T>G	ENSP00000258385.3:p.Ile445Met
ENST00000441621.6:c.*517T>G	ENSP00000408819.2:n.*517T>G
ENST00000446616.1:c.*976T>G	ENSP00000410801.1:n.*976T>G
ENST00000543200.5:c.1290T>G	ENSP00000438380.1:p.Ile430Met
NM_000751.2:c.1335T>G	NP_000742.1:p.Ile445Met
NM_001256657.1:c.1290T>G	NP_001243586.1:p.Ile430Met
NM_001311195.1:c.753T>G	NP_001298124.1:p.Ile251Met
NM_001311196.1:c.1032T>G	NP_001298125.1:p.Ile344Met
NR_046333.1:c.-4294966216T>G
NR_046334.1:c.-4294965937T>G
XM_011510524.1:c.954T>G	XP_011508826.1:p.Ile318Met
XM_011510524.2:c.954T>G	XP_011508826.1:p.Ile318Met
NM_000751.3:c.1335T>G MANE Select	NP_000742.1:p.Ile445Met
NM_001311195.2:c.753T>G	NP_001298124.1:p.Ile251Met
NM_001311196.2:c.1032T>G	NP_001298125.1:p.Ile344Met
NM_001256657.2:c.1290T>G	NP_001243586.1:p.Ile430Met