Canonical Allele Identifier: CA5616306
Gene: CYP2C19 HGNC NCBI

Linked Data

dbSNP Id: rs760774552
ExAC: 10:96522592 CAGAT / C
gnomAD v2: 10-96522592-CAGAT-C
gnomAD v4: 10-94762835-CAGAT-C
MyVariant Identifiers: chr10:g.96522593_96522596del (hg19) chr10:g.94762836_94762839del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.94762841_94762844del , CM000672.2:g.94762841_94762844del GRCh38
NC_000010.10:g.96522598_96522601del , CM000672.1:g.96522598_96522601del GRCh37
NC_000010.9:g.96512588_96512591del NCBI36
NG_008384.2:g.5136_5139del
NG_008384.3:g.5161_5164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371321.9:c.136_139del MANE Select ENSP00000360372.3:p.Asp46LeufsTer8
ENST00000371321.7:c.136_139del ENSP00000360372.3:p.Asp46LeufsTer8
ENST00000464755.1:c.932-12217_932-12214del ENSP00000483243.1:n.932-12217_932-12214del
ENST00000480405.2:c.136_139del ENSP00000483847.1:p.Asp46LeufsTer8
NM_000769.2:c.136_139del NP_000760.1:p.Asp46LeufsTer8
NM_000769.4:c.136_139del MANE Select NP_000760.1:p.Asp46LeufsTer8
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