Canonical Allele Identifier: CA2635856292
Gene: POLR2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502550del , CM000679.2:g.7502550del GRCh38
NC_000017.10:g.7405869del , CM000679.1:g.7405869del GRCh37
NC_000017.9:g.7346593del NCBI36
NG_027747.1:g.23172del
NG_027747.2:g.23172del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3004del
ENST00000674977.2:c.2605del ENSP00000502190.2:p.Glu869SerfsTer3
ENST00000576114.1:n.71del
ENST00000617998.4:c.2605del ENSP00000480158.1:p.Glu869SerfsTer3
ENST00000621442.4:c.2605del ENSP00000483957.1:p.Glu869SerfsTer3
NM_000937.4:c.2605del NP_000928.1:p.Glu869SerfsTer3
NM_000937.5:c.2605del MANE Select NP_000928.1:p.Glu869SerfsTer3