Canonical Allele Identifier: CA5616359

Gene: CYP2C19

Linked Data

• dbSNP Id: rs765198346
• ExAC: 10:96534942 A / AAG
• gnomAD v2: 10-96534942-A-AAG
• gnomAD v4: 10-94775185-A-AAG
• MyVariant Identifiers: chr10:g.96534942_96534943insAG (hg19) ; chr10:g.94775185_94775186insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94775185_94775186insAG , CM000672.2:g.94775185_94775186insAG	GRCh38
NC_000010.10:g.96534942_96534943insAG , CM000672.1:g.96534942_96534943insAG	GRCh37
NC_000010.9:g.96524932_96524933insAG	NCBI36
NG_008384.2:g.17480_17481insAG
NG_008384.3:g.17505_17506insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371321.9:c.296_297insAG MANE Select	ENSP00000360372.3:p.His99GlnfsTer?
ENST00000645461.1:n.1349_1350insAG
ENST00000371321.7:c.296_297insAG	ENSP00000360372.3:p.His99GlnfsTer?
ENST00000464755.1:c.1059_1060insAG	ENSP00000483243.1:n.1059_1060insAG
ENST00000480405.2:c.296_297insAG	ENSP00000483847.1:p.His99GlnfsTer?
NM_000769.2:c.296_297insAG	NP_000760.1:p.His99GlnfsTer?
NM_000769.4:c.296_297insAG MANE Select	NP_000760.1:p.His99GlnfsTer?