Canonical Allele Identifier: CA8349747

Gene: POLR2A

Linked Data

• dbSNP Id: rs760907436
• ExAC: 17:7405892 C / T
• gnomAD v2: 17-7405892-C-T
• gnomAD v3: 17-7502573-C-T
• gnomAD v4: 17-7502573-C-T
• MyVariant Identifiers: chr17:g.7405892C>T (hg19) ; chr17:g.7502573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7502573C>T , CM000679.2:g.7502573C>T	GRCh38
NC_000017.10:g.7405892C>T , CM000679.1:g.7405892C>T	GRCh37
NC_000017.9:g.7346616C>T	NCBI36
NG_027747.1:g.23195C>T
NG_027747.2:g.23195C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617998.6:n.3027C>T
ENST00000674977.2:c.2628C>T	ENSP00000502190.2:p.Asp876=
ENST00000576114.1:n.94C>T
ENST00000617998.4:c.2628C>T	ENSP00000480158.1:p.Asp876=
ENST00000621442.4:c.2628C>T	ENSP00000483957.1:p.Asp876=
NM_000937.4:c.2628C>T	NP_000928.1:p.Asp876=
NM_000937.5:c.2628C>T MANE Select	NP_000928.1:p.Asp876=