Canonical Allele Identifier: CA397796333

Gene: POLR2A

Linked Data

• MyVariant Identifiers: chr17:g.7405876T>A (hg19) ; chr17:g.7502557T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502557T>A , CM000679.2:g.7502557T>A	GRCh38
NC_000017.10:g.7405876T>A , CM000679.1:g.7405876T>A	GRCh37
NC_000017.9:g.7346600T>A	NCBI36
NG_027747.1:g.23179T>A
NG_027747.2:g.23179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3011T>A
ENST00000674977.2:c.2612T>A	ENSP00000502190.2:p.Val871Glu
ENST00000576114.1:n.78T>A
ENST00000617998.4:c.2612T>A	ENSP00000480158.1:p.Val871Glu
ENST00000621442.4:c.2612T>A	ENSP00000483957.1:p.Val871Glu
NM_000937.4:c.2612T>A	NP_000928.1:p.Val871Glu
NM_000937.5:c.2612T>A MANE Select	NP_000928.1:p.Val871Glu