Canonical Allele Identifier: CA2168287

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2181412
• ClinVar RCV Id: RCV002606134 ; RCV003143501
• dbSNP Id: rs138405676
• ExAC: 2:233398796 C / G
• gnomAD v2: 2-233398796-C-G
• gnomAD v3: 2-232534086-C-G
• gnomAD v4: 2-232534086-C-G
• MyVariant Identifiers: chr2:g.233398796C>G (hg19) ; chr2:g.232534086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534086C>G , CM000664.2:g.232534086C>G	GRCh38
NC_000002.11:g.233398796C>G , CM000664.1:g.233398796C>G	GRCh37
NC_000002.10:g.233107040C>G	NCBI36
NG_008028.1:g.12875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1203C>G MANE Select	ENSP00000258385.3:p.Phe401Leu
ENST00000258385.7:c.1203C>G	ENSP00000258385.3:p.Phe401Leu
ENST00000441621.6:c.*385C>G	ENSP00000408819.2:n.*385C>G
ENST00000446616.1:c.*844C>G	ENSP00000410801.1:n.*844C>G
ENST00000543200.5:c.1158C>G	ENSP00000438380.1:p.Phe386Leu
NM_000751.2:c.1203C>G	NP_000742.1:p.Phe401Leu
NM_001256657.1:c.1158C>G	NP_001243586.1:p.Phe386Leu
NM_001311195.1:c.621C>G	NP_001298124.1:p.Phe207Leu
NM_001311196.1:c.900C>G	NP_001298125.1:p.Phe300Leu
NR_046333.1:c.-4294966348C>G
NR_046334.1:c.-4294966069C>G
XM_011510524.1:c.822C>G	XP_011508826.1:p.Phe274Leu
XM_011510524.2:c.822C>G	XP_011508826.1:p.Phe274Leu
NM_000751.3:c.1203C>G MANE Select	NP_000742.1:p.Phe401Leu
NM_001311195.2:c.621C>G	NP_001298124.1:p.Phe207Leu
NM_001311196.2:c.900C>G	NP_001298125.1:p.Phe300Leu
NM_001256657.2:c.1158C>G	NP_001243586.1:p.Phe386Leu