Canonical Allele Identifier: CA351005321

Gene: CHRND

Linked Data

• ClinVar Variation Id: 2418687
• ClinVar RCV Id: RCV003121436
• COSMIC: COSM6370630
• MyVariant Identifiers: chr2:g.233398831G>T (hg19) ; chr2:g.232534121G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258385.8:c.1238G>T MANE Select	ENSP00000258385.3:p.Arg413Leu
ENST00000258385.7:c.1238G>T	ENSP00000258385.3:p.Arg413Leu
ENST00000441621.6:c.*420G>T	ENSP00000408819.2:n.*420G>T
ENST00000446616.1:c.*879G>T	ENSP00000410801.1:n.*879G>T
ENST00000543200.5:c.1193G>T	ENSP00000438380.1:p.Arg398Leu
NM_000751.2:c.1238G>T	NP_000742.1:p.Arg413Leu
NM_001256657.1:c.1193G>T	NP_001243586.1:p.Arg398Leu
NM_001311195.1:c.656G>T	NP_001298124.1:p.Arg219Leu
NM_001311196.1:c.935G>T	NP_001298125.1:p.Arg312Leu
NR_046333.1:c.-4294966313G>T
NR_046334.1:c.-4294966034G>T
XM_011510524.1:c.857G>T	XP_011508826.1:p.Arg286Leu
XM_011510524.2:c.857G>T	XP_011508826.1:p.Arg286Leu
NM_000751.3:c.1238G>T MANE Select	NP_000742.1:p.Arg413Leu
NM_001311195.2:c.656G>T	NP_001298124.1:p.Arg219Leu
NM_001311196.2:c.935G>T	NP_001298125.1:p.Arg312Leu
NM_001256657.2:c.1193G>T	NP_001243586.1:p.Arg398Leu