Canonical Allele Identifier: CA497702660
Gene: POLR2A HGNC NCBI

Linked Data

gnomAD v4: 17-7502540-C-T
MyVariant Identifiers: chr17:g.7405859C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502540C>T , CM000679.2:g.7502540C>T GRCh38
NC_000017.10:g.7405859C>T , CM000679.1:g.7405859C>T GRCh37
NC_000017.9:g.7346583C>T NCBI36
NG_027747.1:g.23162C>T
NG_027747.2:g.23162C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.2994C>T
ENST00000674977.2:c.2595C>T ENSP00000502190.2:p.Ile865=
ENST00000576114.1:n.61C>T
ENST00000617998.4:c.2595C>T ENSP00000480158.1:p.Ile865=
ENST00000621442.4:c.2595C>T ENSP00000483957.1:p.Ile865=
NM_000937.4:c.2595C>T NP_000928.1:p.Ile865=
NM_000937.5:c.2595C>T MANE Select NP_000928.1:p.Ile865=
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