Canonical Allele Identifier: CA670224801

Gene: CYP2C8

Linked Data

• dbSNP Id: rs1471030419
• gnomAD v3: 10-95037300-ATT-A
• gnomAD v4: 10-95037300-ATT-A
• MyVariant Identifiers: chr10:g.96797058_96797059del (hg19) ; chr10:g.95037301_95037302del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037301_95037302del , CM000672.2:g.95037301_95037302del	GRCh38
NC_000010.10:g.96797058_96797059del , CM000672.1:g.96797058_96797059del	GRCh37
NC_000010.9:g.96787048_96787049del	NCBI36
NG_007972.1:g.37196_37197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1299_1300del MANE Select	ENSP00000360317.3:p.Ile434LeufsTer23
ENST00000371270.5:c.1299_1300del	ENSP00000360317.3:p.Ile434LeufsTer23
ENST00000490994.6:c.*1085_*1086del	ENSP00000433314.1:n.*1085_*1086del
ENST00000525991.5:c.*874_*875del	ENSP00000433842.1:n.*874_*875del
ENST00000526814.5:n.1554_1555del
ENST00000527420.5:c.*156_*157del	ENSP00000433191.1:n.*156_*157del
ENST00000527953.5:n.1593_1594del
ENST00000531714.1:n.487_488del
ENST00000533320.5:n.1533_1534del
ENST00000535898.5:c.993_994del	ENSP00000445062.1:p.Ile332LeufsTer23
ENST00000539050.5:c.1089_1090del	ENSP00000442343.2:p.Ile364LeufsTer23
ENST00000623108.3:c.1089_1090del	ENSP00000485110.1:p.Ile364LeufsTer23
NM_000770.3:c.1299_1300del MANE Select	NP_000761.3:p.Ile434LeufsTer23
NM_001198853.1:c.1089_1090del	NP_001185782.1:p.Ile364LeufsTer23
NM_001198854.1:c.993_994del	NP_001185783.1:p.Ile332LeufsTer23
NM_001198855.1:c.1089_1090del	NP_001185784.1:p.Ile364LeufsTer23
XR_945610.1:n.1434_1435del