Canonical Allele Identifier: CA5617192
Gene: CYP2C9 HGNC NCBI
ClinVar RCV:
RCV000363569
RCV000787932
RCV000788096
RCV000788102
ClinVar Variation:
285601
dbSNP:
9332131
gnomAD v2:
10:96709038 GA / G
gnomAD v3:
10:94949281 GA / G
gnomAD v4:
chr10-94949281-GA-G
Joint Max Group AF 0.01097012 (AFR)
Genomes Max Group AF 0.00997741 (AFR)
Exomes Max Group AF 0.01162379 (AFR)
MyVariant.info:
GRCh38 chr10:g.94949283del
GRCh38 chr10:g.94949282del
GRCh37 chr10:g.96709040del
GRCh37 chr10:g.96709039del
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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?
Search 100 bp 5'
Search 100 bp 3'