Canonical Allele Identifier: CA497702664
Gene: POLR2A HGNC NCBI

Linked Data

dbSNP Id: rs2070598226
MyVariant Identifiers: chr17:g.7405865C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502546C>T , CM000679.2:g.7502546C>T GRCh38
NC_000017.10:g.7405865C>T , CM000679.1:g.7405865C>T GRCh37
NC_000017.9:g.7346589C>T NCBI36
NG_027747.1:g.23168C>T
NG_027747.2:g.23168C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3000C>T
ENST00000674977.2:c.2601C>T ENSP00000502190.2:p.Ser867=
ENST00000576114.1:n.67C>T
ENST00000617998.4:c.2601C>T ENSP00000480158.1:p.Ser867=
ENST00000621442.4:c.2601C>T ENSP00000483957.1:p.Ser867=
NM_000937.4:c.2601C>T NP_000928.1:p.Ser867=
NM_000937.5:c.2601C>T MANE Select NP_000928.1:p.Ser867=
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