Canonical Allele Identifier: CA5767908
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs11101812
ExAC: 10:135352520 T / C
gnomAD v2: 10-135352520-T-C
gnomAD v3: 10-133539016-T-C
gnomAD v4: 10-133539016-T-C
MyVariant Identifiers: chr10:g.135352520T>C (hg19) chr10:g.133539016T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539016T>C , CM000672.2:g.133539016T>C GRCh38
NC_000010.10:g.135352520T>C , CM000672.1:g.135352520T>C GRCh37
NC_000010.9:g.135202510T>C NCBI36
NG_008383.1:g.16654T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252945.8:c.*52T>C MANE Select ENSP00000252945.3:n.*52T>C
ENST00000252945.7:c.*52T>C ENSP00000252945.3:n.*52T>C
ENST00000368520.1:n.1358+1124T>C
ENST00000463117.6:c.*52T>C ENSP00000440689.1:n.*52T>C
ENST00000469258.1:n.630T>C
NM_000773.3:c.*52T>C NP_000764.1:n.*52T>C
NM_000773.4:c.*52T>C MANE Select NP_000764.1:n.*52T>C
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