Canonical Allele Identifier: CA397796522
Gene: POLR2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502611T>G , CM000679.2:g.7502611T>G GRCh38
NC_000017.10:g.7405930T>G , CM000679.1:g.7405930T>G GRCh37
NC_000017.9:g.7346654T>G NCBI36
NG_027747.1:g.23233T>G
NG_027747.2:g.23233T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3065T>G
ENST00000674977.2:c.2666T>G ENSP00000502190.2:p.Leu889Arg
ENST00000576114.1:n.132T>G
ENST00000617998.4:c.2666T>G ENSP00000480158.1:p.Leu889Arg
ENST00000621442.4:c.2666T>G ENSP00000483957.1:p.Leu889Arg
NM_000937.4:c.2666T>G NP_000928.1:p.Leu889Arg
NM_000937.5:c.2666T>G MANE Select NP_000928.1:p.Leu889Arg