Canonical Allele Identifier: CA5617192

Gene: CYP2C9

Linked Data

• ClinVar Variation Id: 285601
• ClinVar RCV Id: RCV000363569 ; RCV000787932 ; RCV000788096 ; RCV000788102
• dbSNP Id: rs9332131
• ExAC: 10:96709038 GA / G
• gnomAD v2: 10-96709038-GA-G
• gnomAD v3: 10-94949281-GA-G
• gnomAD v4: 10-94949281-GA-G
• MyVariant Identifiers: chr10:g.96709040del (hg19) ; chr10:g.96709039del (hg19) ; chr10:g.94949283del (hg38) ; chr10:g.94949282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94949283del , CM000672.2:g.94949283del	GRCh38
NC_000010.10:g.96709040del , CM000672.1:g.96709040del	GRCh37
NC_000010.9:g.96699030del	NCBI36
NG_008385.1:g.15626del
NG_008385.2:g.16126del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260682.8:c.818del MANE Select	ENSP00000260682.6:p.Lys273ArgfsTer?
ENST00000643112.1:c.818del	ENSP00000496202.1:p.Lys273SerfsTer2
ENST00000260682.6:c.818del	ENSP00000260682.6:p.Lys273ArgfsTer?
ENST00000473496.1:n.589del
NM_000771.3:c.818del	NP_000762.2:p.Lys273ArgfsTer?
NM_000771.4:c.818del MANE Select	NP_000762.2:p.Lys273ArgfsTer?