Canonical Allele Identifier: CA5617487

Gene: CYP2C8

Linked Data

• dbSNP Id: rs748974036
• ExAC: 10:96797045 TCTC / T
• gnomAD v2: 10-96797045-TCTC-T
• gnomAD v3: 10-95037288-TCTC-T
• gnomAD v4: 10-95037288-TCTC-T
• MyVariant Identifiers: chr10:g.96797046_96797048del (hg19) ; chr10:g.95037289_95037291del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037291_95037293del , CM000672.2:g.95037291_95037293del	GRCh38
NC_000010.10:g.96797048_96797050del , CM000672.1:g.96797048_96797050del	GRCh37
NC_000010.9:g.96787038_96787040del	NCBI36
NG_007972.1:g.37207_37209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1310_1312del MANE Select	ENSP00000360317.3:p.Gly437del
ENST00000371270.5:c.1310_1312del	ENSP00000360317.3:p.Gly437del
ENST00000490994.6:c.*1096_*1098del	ENSP00000433314.1:n.*1096_*1098del
ENST00000525991.5:c.*885_*887del	ENSP00000433842.1:n.*885_*887del
ENST00000526814.5:n.1565_1567del
ENST00000527420.5:c.*167_*169del	ENSP00000433191.1:n.*167_*169del
ENST00000527953.5:n.1604_1606del
ENST00000531714.1:n.498_500del
ENST00000533320.5:n.1544_1546del
ENST00000535898.5:c.1004_1006del	ENSP00000445062.1:p.Gly335del
ENST00000539050.5:c.1100_1102del	ENSP00000442343.2:p.Gly367del
ENST00000623108.3:c.1100_1102del	ENSP00000485110.1:p.Gly367del
NM_000770.3:c.1310_1312del MANE Select	NP_000761.3:p.Gly437del
NM_001198853.1:c.1100_1102del	NP_001185782.1:p.Gly367del
NM_001198854.1:c.1004_1006del	NP_001185783.1:p.Gly335del
NM_001198855.1:c.1100_1102del	NP_001185784.1:p.Gly367del
XR_945610.1:n.1445_1447del