Canonical Allele Identifier: CA8349752

Gene: POLR2A

Linked Data

• dbSNP Id: rs571476963
• ExAC: 17:7405931 G / C
• gnomAD v2: 17-7405931-G-C
• gnomAD v3: 17-7502612-G-C
• gnomAD v4: 17-7502612-G-C
• MyVariant Identifiers: chr17:g.7405931G>C (hg19) ; chr17:g.7502612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502612G>C , CM000679.2:g.7502612G>C	GRCh38
NC_000017.10:g.7405931G>C , CM000679.1:g.7405931G>C	GRCh37
NC_000017.9:g.7346655G>C	NCBI36
NG_027747.1:g.23234G>C
NG_027747.2:g.23234G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3066G>C
ENST00000674977.2:c.2667G>C	ENSP00000502190.2:p.Leu889=
ENST00000576114.1:n.133G>C
ENST00000617998.4:c.2667G>C	ENSP00000480158.1:p.Leu889=
ENST00000621442.4:c.2667G>C	ENSP00000483957.1:p.Leu889=
NM_000937.4:c.2667G>C	NP_000928.1:p.Leu889=
NM_000937.5:c.2667G>C MANE Select	NP_000928.1:p.Leu889=