Canonical Allele Identifier: CA8349763

Gene: POLR2A

Linked Data

• dbSNP Id: rs775542325
• ExAC: 17:7405988 G / A
• gnomAD v2: 17-7405988-G-A
• gnomAD v3: 17-7502669-G-A
• gnomAD v4: 17-7502669-G-A
• MyVariant Identifiers: chr17:g.7405988G>A (hg19) ; chr17:g.7502669G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502669G>A , CM000679.2:g.7502669G>A	GRCh38
NC_000017.10:g.7405988G>A , CM000679.1:g.7405988G>A	GRCh37
NC_000017.9:g.7346712G>A	NCBI36
NG_027747.1:g.23291G>A
NG_027747.2:g.23291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3123G>A
ENST00000674977.2:c.2724G>A	ENSP00000502190.2:p.Thr908=
ENST00000576114.1:n.190G>A
ENST00000617998.4:c.2724G>A	ENSP00000480158.1:p.Thr908=
ENST00000621442.4:c.2724G>A	ENSP00000483957.1:p.Thr908=
NM_000937.4:c.2724G>A	NP_000928.1:p.Thr908=
NM_000937.5:c.2724G>A MANE Select	NP_000928.1:p.Thr908=