Canonical Allele Identifier: CA14667965

Gene: POLR2E

Linked Data

• dbSNP Id: rs3787016
• gnomAD v2: 19-1090803-A-G
• gnomAD v3: 19-1090804-A-G
• gnomAD v4: 19-1090804-A-G
• MyVariant Identifiers: chr19:g.1090803A>G (hg19) ; chr19:g.1090804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1090804A>G , CM000681.2:g.1090804A>G	GRCh38
NC_000019.9:g.1090803A>G , CM000681.1:g.1090803A>G	GRCh37
NC_000019.8:g.1041803A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000615234.5:c.429+104T>C MANE Select	ENSP00000478303.1:n.429+104T>C
ENST00000215587.11:c.429+104T>C	ENSP00000215587.7:n.429+104T>C
ENST00000585838.2:c.200+104T>C
ENST00000586746.5:c.429+104T>C	ENSP00000464739.1:n.429+104T>C
ENST00000586817.5:n.1669+104T>C
ENST00000589737.5:c.*98+104T>C	ENSP00000467905.1:n.*98+104T>C
ENST00000590060.5:c.231+104T>C	ENSP00000479560.1:n.231+104T>C
ENST00000591767.5:c.*195+104T>C	ENSP00000465066.1:n.*195+104T>C
ENST00000612655.4:c.429+104T>C	ENSP00000485021.1:n.429+104T>C
ENST00000614705.4:n.468+104T>C
ENST00000615234.4:c.429+104T>C	ENSP00000478303.1:n.429+104T>C
ENST00000619917.4:c.349-659T>C	ENSP00000479813.1:n.349-659T>C
NM_001316323.1:c.150+104T>C	NP_001303252.1:n.150+104T>C
NM_001316324.1:c.150+104T>C	NP_001303253.1:n.150+104T>C
NM_002695.3:c.429+104T>C	NP_002686.2:n.429+104T>C
XM_011528070.1:c.429+104T>C	XP_011526372.1:n.429+104T>C
XM_011528070.3:c.429+104T>C	XP_011526372.1:n.429+104T>C
XM_017026883.2:c.150+104T>C	XP_016882372.1:n.150+104T>C
NM_002695.4:c.429+104T>C	NP_002686.2:n.429+104T>C
NM_001316323.2:c.150+104T>C	NP_001303252.1:n.150+104T>C
NM_001316324.2:c.150+104T>C	NP_001303253.1:n.150+104T>C
NM_002695.5:c.429+104T>C MANE Select	NP_002686.3:n.429+104T>C