Canonical Allele Identifier: CA504705187

Gene: POLR2E

Linked Data

• gnomAD v4: 19-1093986-C-T
• MyVariant Identifiers: chr19:g.1093985C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1093986C>T , CM000681.2:g.1093986C>T	GRCh38
NC_000019.9:g.1093985C>T , CM000681.1:g.1093985C>T	GRCh37
NC_000019.8:g.1044985C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000615234.5:c.150G>A MANE Select	ENSP00000478303.1:p.Glu50=
ENST00000215587.11:c.150G>A	ENSP00000215587.7:p.Glu50=
ENST00000585838.2:c.3+1273G>A
ENST00000586746.5:c.150G>A	ENSP00000464739.1:p.Glu50=
ENST00000586817.5:n.1390G>A
ENST00000589737.5:c.57+1273G>A	ENSP00000467905.1:n.57+1273G>A
ENST00000591709.1:n.196G>A
ENST00000591767.5:c.58-83G>A	ENSP00000465066.1:n.58-83G>A
ENST00000592597.1:n.184G>A
ENST00000612655.4:c.150G>A	ENSP00000485021.1:p.Glu50=
ENST00000614705.4:n.189G>A
ENST00000615234.4:c.150G>A	ENSP00000478303.1:p.Glu50=
ENST00000619917.4:c.150G>A	ENSP00000479813.1:p.Glu50=
NM_001316323.1:c.-48+1273G>A	NP_001303252.1:n.-48+1273G>A
NM_001316324.1:c.-195-83G>A	NP_001303253.1:n.-195-83G>A
NM_002695.3:c.150G>A	NP_002686.2:p.Glu50=
XM_011528070.1:c.150G>A	XP_011526372.1:p.Glu50=
XM_011528070.3:c.150G>A	XP_011526372.1:p.Glu50=
XM_017026883.2:c.-48+1273G>A	XP_016882372.1:n.-48+1273G>A
NM_002695.4:c.150G>A	NP_002686.2:p.Glu50=
NM_001316323.2:c.-48+1273G>A	NP_001303252.1:n.-48+1273G>A
NM_001316324.2:c.-195-83G>A	NP_001303253.1:n.-195-83G>A
NM_002695.5:c.150G>A MANE Select	NP_002686.3:p.Glu50=