Canonical Allele Identifier: CA2842430280
Gene: POLR2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502693dup , CM000679.2:g.7502693dup GRCh38
NC_000017.10:g.7406012dup , CM000679.1:g.7406012dup GRCh37
NC_000017.9:g.7346736dup NCBI36
NG_027747.1:g.23315dup
NG_027747.2:g.23315dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3147dup
ENST00000674977.2:c.2748dup ENSP00000502190.2:p.Glu917Ter
ENST00000576114.1:n.214dup
ENST00000617998.4:c.2748dup ENSP00000480158.1:p.Glu917Ter
ENST00000621442.4:c.2748dup ENSP00000483957.1:p.Glu917Ter
NM_000937.4:c.2748dup NP_000928.1:p.Glu917Ter
NM_000937.5:c.2748dup MANE Select NP_000928.1:p.Glu917Ter