Canonical Allele Identifier: CA2839815064
Gene: POLR2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502677dup , CM000679.2:g.7502677dup GRCh38
NC_000017.10:g.7405996dup , CM000679.1:g.7405996dup GRCh37
NC_000017.9:g.7346720dup NCBI36
NG_027747.1:g.23299dup
NG_027747.2:g.23299dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3131dup
ENST00000674977.2:c.2732dup ENSP00000502190.2:p.Ser912PhefsTer6
ENST00000576114.1:n.198dup
ENST00000617998.4:c.2732dup ENSP00000480158.1:p.Ser912PhefsTer6
ENST00000621442.4:c.2732dup ENSP00000483957.1:p.Ser912PhefsTer6
NM_000937.4:c.2732dup NP_000928.1:p.Ser912PhefsTer6
NM_000937.5:c.2732dup MANE Select NP_000928.1:p.Ser912PhefsTer6