Canonical Allele Identifier: CA595314943

Gene: CYP2C9

Linked Data

• dbSNP Id: rs1233245117
• gnomAD v2: 10-96702347-C-CT
• gnomAD v3: 10-94942590-C-CT
• gnomAD v4: 10-94942590-C-CT
• MyVariant Identifiers: chr10:g.96702347_96702348insT (hg19) ; chr10:g.94942590_94942591insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94942596dup , CM000672.2:g.94942596dup	GRCh38
NC_000010.10:g.96702353dup , CM000672.1:g.96702353dup	GRCh37
NC_000010.9:g.96692343dup	NCBI36
NG_008385.1:g.8939dup
NG_008385.2:g.9439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260682.8:c.481+255dup MANE Select	ENSP00000260682.6:n.481+255dup
ENST00000643112.1:c.481+255dup	ENSP00000496202.1:n.481+255dup
ENST00000645207.1:n.634+255dup
ENST00000260682.6:c.481+255dup	ENSP00000260682.6:n.481+255dup
ENST00000461906.1:n.761dup
ENST00000473496.1:n.252+255dup
NM_000771.3:c.481+255dup	NP_000762.2:n.481+255dup
NM_000771.4:c.481+255dup MANE Select	NP_000762.2:n.481+255dup