Canonical Allele Identifier: CA2611616418
Gene: CYP2E1 HGNC NCBI

Linked Data

gnomAD v4: 10-133531982-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133531982T>C , CM000672.2:g.133531982T>C GRCh38
NC_000010.10:g.135345486T>C , CM000672.1:g.135345486T>C GRCh37
NC_000010.9:g.135195476T>C NCBI36
NG_008383.1:g.9620T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252945.8:c.488-142T>C MANE Select ENSP00000252945.3:n.488-142T>C
ENST00000252945.7:c.488-142T>C ENSP00000252945.3:n.488-142T>C
ENST00000368520.1:n.407T>C
ENST00000418356.1:c.77-142T>C ENSP00000397299.1:n.77-142T>C
ENST00000421586.5:c.227-142T>C ENSP00000412754.1:n.227-142T>C
ENST00000463117.6:c.488-142T>C ENSP00000440689.1:n.488-142T>C
ENST00000477500.5:n.448+248T>C
ENST00000480558.1:n.713-142T>C
ENST00000541080.5:c.226+248T>C
NM_000773.3:c.488-142T>C NP_000764.1:n.488-142T>C
NM_000773.4:c.488-142T>C MANE Select NP_000764.1:n.488-142T>C
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