Canonical Allele Identifier: CA775012399
Gene: POLR2A HGNC NCBI

Linked Data

dbSNP Id: rs371792642
gnomAD v3: 17-7502712-G-C
gnomAD v4: 17-7502712-G-C
MyVariant Identifiers: chr17:g.7406031G>C (hg19) chr17:g.7502712G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502712G>C , CM000679.2:g.7502712G>C GRCh38
NC_000017.10:g.7406031G>C , CM000679.1:g.7406031G>C GRCh37
NC_000017.9:g.7346755G>C NCBI36
NG_027747.1:g.23334G>C
NG_027747.2:g.23334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3155+11G>C
ENST00000674977.2:c.2756+11G>C ENSP00000502190.2:n.2756+11G>C
ENST00000576114.1:n.233G>C
ENST00000617998.4:c.2756+11G>C ENSP00000480158.1:n.2756+11G>C
ENST00000621442.4:c.2756+11G>C ENSP00000483957.1:n.2756+11G>C
NM_000937.4:c.2756+11G>C NP_000928.1:n.2756+11G>C
NM_000937.5:c.2756+11G>C MANE Select NP_000928.1:n.2756+11G>C
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