Canonical Allele Identifier: CA2168296

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2850946
• ClinVar RCV Id: RCV003635282
• dbSNP Id: rs757950320
• ExAC: 2:233398831 G / A
• gnomAD v2: 2-233398831-G-A
• gnomAD v3: 2-232534121-G-A
• gnomAD v4: 2-232534121-G-A
• MyVariant Identifiers: chr2:g.233398831G>A (hg19) ; chr2:g.232534121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232534121G>A , CM000664.2:g.232534121G>A	GRCh38
NC_000002.11:g.233398831G>A , CM000664.1:g.233398831G>A	GRCh37
NC_000002.10:g.233107075G>A	NCBI36
NG_008028.1:g.12910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1238G>A MANE Select	ENSP00000258385.3:p.Arg413His
ENST00000258385.7:c.1238G>A	ENSP00000258385.3:p.Arg413His
ENST00000441621.6:c.*420G>A	ENSP00000408819.2:n.*420G>A
ENST00000446616.1:c.*879G>A	ENSP00000410801.1:n.*879G>A
ENST00000543200.5:c.1193G>A	ENSP00000438380.1:p.Arg398His
NM_000751.2:c.1238G>A	NP_000742.1:p.Arg413His
NM_001256657.1:c.1193G>A	NP_001243586.1:p.Arg398His
NM_001311195.1:c.656G>A	NP_001298124.1:p.Arg219His
NM_001311196.1:c.935G>A	NP_001298125.1:p.Arg312His
NR_046333.1:c.-4294966313G>A
NR_046334.1:c.-4294966034G>A
XM_011510524.1:c.857G>A	XP_011508826.1:p.Arg286His
XM_011510524.2:c.857G>A	XP_011508826.1:p.Arg286His
NM_000751.3:c.1238G>A MANE Select	NP_000742.1:p.Arg413His
NM_001311195.2:c.656G>A	NP_001298124.1:p.Arg219His
NM_001311196.2:c.935G>A	NP_001298125.1:p.Arg312His
NM_001256657.2:c.1193G>A	NP_001243586.1:p.Arg398His