Canonical Allele Identifier: CA397796212
Gene: POLR2A HGNC NCBI

Linked Data

dbSNP Id: rs2150883428
gnomAD v4: 17-7502533-G-A
MyVariant Identifiers: chr17:g.7405852G>A (hg19) chr17:g.7502533G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502533G>A , CM000679.2:g.7502533G>A GRCh38
NC_000017.10:g.7405852G>A , CM000679.1:g.7405852G>A GRCh37
NC_000017.9:g.7346576G>A NCBI36
NG_027747.1:g.23155G>A
NG_027747.2:g.23155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.2987G>A
ENST00000674977.2:c.2588G>A ENSP00000502190.2:p.Arg863Gln
ENST00000576114.1:n.54G>A
ENST00000617998.4:c.2588G>A ENSP00000480158.1:p.Arg863Gln
ENST00000621442.4:c.2588G>A ENSP00000483957.1:p.Arg863Gln
NM_000937.4:c.2588G>A NP_000928.1:p.Arg863Gln
NM_000937.5:c.2588G>A MANE Select NP_000928.1:p.Arg863Gln
Search 100 bp 5'
Search 100 bp 3'