Canonical Allele Identifier: CA397796506
Gene: POLR2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502604G>T , CM000679.2:g.7502604G>T GRCh38
NC_000017.10:g.7405923G>T , CM000679.1:g.7405923G>T GRCh37
NC_000017.9:g.7346647G>T NCBI36
NG_027747.1:g.23226G>T
NG_027747.2:g.23226G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3058G>T
ENST00000674977.2:c.2659G>T ENSP00000502190.2:p.Val887Leu
ENST00000576114.1:n.125G>T
ENST00000617998.4:c.2659G>T ENSP00000480158.1:p.Val887Leu
ENST00000621442.4:c.2659G>T ENSP00000483957.1:p.Val887Leu
NM_000937.4:c.2659G>T NP_000928.1:p.Val887Leu
NM_000937.5:c.2659G>T MANE Select NP_000928.1:p.Val887Leu