Canonical Allele Identifier: CA8349772

Gene: POLR2A

Linked Data

• dbSNP Id: rs765965781
• ExAC: 17:7406037 G / A
• gnomAD v2: 17-7406037-G-A
• gnomAD v4: 17-7502718-G-A
• MyVariant Identifiers: chr17:g.7406037G>A (hg19) ; chr17:g.7502718G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502718G>A , CM000679.2:g.7502718G>A	GRCh38
NC_000017.10:g.7406037G>A , CM000679.1:g.7406037G>A	GRCh37
NC_000017.9:g.7346761G>A	NCBI36
NG_027747.1:g.23340G>A
NG_027747.2:g.23340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3155+17G>A
ENST00000674977.2:c.2756+17G>A	ENSP00000502190.2:n.2756+17G>A
ENST00000576114.1:n.239G>A
ENST00000617998.4:c.2756+17G>A	ENSP00000480158.1:n.2756+17G>A
ENST00000621442.4:c.2756+17G>A	ENSP00000483957.1:n.2756+17G>A
NM_000937.4:c.2756+17G>A	NP_000928.1:n.2756+17G>A
NM_000937.5:c.2756+17G>A MANE Select	NP_000928.1:n.2756+17G>A