Canonical Allele Identifier: CA5616465

Gene: CYP2C19

Linked Data

• dbSNP Id: rs756864516
• ExAC: 10:96540214 CTAA / C
• gnomAD v2: 10-96540214-CTAA-C
• gnomAD v3: 10-94780457-CTAA-C
• gnomAD v4: 10-94780457-CTAA-C
• MyVariant Identifiers: chr10:g.96540215_96540217del (hg19) ; chr10:g.94780458_94780460del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.94780459_94780461del , CM000672.2:g.94780459_94780461del	GRCh38
NC_000010.10:g.96540216_96540218del , CM000672.1:g.96540216_96540218del	GRCh37
NC_000010.9:g.96530206_96530208del	NCBI36
NG_008384.2:g.22754_22756del
NG_008384.3:g.22779_22781del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371321.9:c.482-40_482-38del MANE Select	ENSP00000360372.3:n.482-40_482-38del
ENST00000645461.1:n.1535-40_1535-38del
ENST00000371321.7:c.482-40_482-38del	ENSP00000360372.3:n.482-40_482-38del
ENST00000464755.1:c.1245-40_1245-38del	ENSP00000483243.1:n.1245-40_1245-38del
NM_000769.2:c.482-40_482-38del	NP_000760.1:n.482-40_482-38del
NM_000769.4:c.482-40_482-38del MANE Select	NP_000760.1:n.482-40_482-38del