Canonical Allele Identifier: CA5767871
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs751497564
ExAC: 10:135352334 T / C
gnomAD v2: 10-135352334-T-C
gnomAD v3: 10-133538830-T-C
gnomAD v4: 10-133538830-T-C
MyVariant Identifiers: chr10:g.135352334T>C (hg19) chr10:g.133538830T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538830T>C , CM000672.2:g.133538830T>C GRCh38
NC_000010.10:g.135352334T>C , CM000672.1:g.135352334T>C GRCh37
NC_000010.9:g.135202324T>C NCBI36
NG_008383.1:g.16468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1348T>C MANE Select ENSP00000252945.3:p.Leu450=
ENST00000252945.7:c.1348T>C ENSP00000252945.3:p.Leu450=
ENST00000368520.1:n.1358+938T>C
ENST00000463117.6:c.1348T>C ENSP00000440689.1:p.Leu450=
ENST00000469258.1:n.444T>C
NM_000773.3:c.1348T>C NP_000764.1:p.Leu450=
NM_000773.4:c.1348T>C MANE Select NP_000764.1:p.Leu450=
Search 100 bp 5'
Search 100 bp 3'