Canonical Allele Identifier: CA8349756

Gene: POLR2A

Linked Data

• dbSNP Id: rs768318123
• ExAC: 17:7405946 C / T
• gnomAD v2: 17-7405946-C-T
• gnomAD v3: 17-7502627-C-T
• gnomAD v4: 17-7502627-C-T
• MyVariant Identifiers: chr17:g.7405946C>T (hg19) ; chr17:g.7502627C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502627C>T , CM000679.2:g.7502627C>T	GRCh38
NC_000017.10:g.7405946C>T , CM000679.1:g.7405946C>T	GRCh37
NC_000017.9:g.7346670C>T	NCBI36
NG_027747.1:g.23249C>T
NG_027747.2:g.23249C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617998.6:n.3081C>T
ENST00000674977.2:c.2682C>T	ENSP00000502190.2:p.Asp894=
ENST00000576114.1:n.148C>T
ENST00000617998.4:c.2682C>T	ENSP00000480158.1:p.Asp894=
ENST00000621442.4:c.2682C>T	ENSP00000483957.1:p.Asp894=
NM_000937.4:c.2682C>T	NP_000928.1:p.Asp894=
NM_000937.5:c.2682C>T MANE Select	NP_000928.1:p.Asp894=