Canonical Allele Identifier: CA8349770

Gene: POLR2A

Linked Data

• dbSNP Id: rs750962035
• ExAC: 17:7406033 G / T
• gnomAD v2: 17-7406033-G-T
• gnomAD v4: 17-7502714-G-T
• MyVariant Identifiers: chr17:g.7406033G>T (hg19) ; chr17:g.7502714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502714G>T , CM000679.2:g.7502714G>T	GRCh38
NC_000017.10:g.7406033G>T , CM000679.1:g.7406033G>T	GRCh37
NC_000017.9:g.7346757G>T	NCBI36
NG_027747.1:g.23336G>T
NG_027747.2:g.23336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3155+13G>T
ENST00000674977.2:c.2756+13G>T	ENSP00000502190.2:n.2756+13G>T
ENST00000576114.1:n.235G>T
ENST00000617998.4:c.2756+13G>T	ENSP00000480158.1:n.2756+13G>T
ENST00000621442.4:c.2756+13G>T	ENSP00000483957.1:n.2756+13G>T
NM_000937.4:c.2756+13G>T	NP_000928.1:n.2756+13G>T
NM_000937.5:c.2756+13G>T MANE Select	NP_000928.1:n.2756+13G>T