Canonical Allele Identifier: CA2635856396
Gene: POLR2A HGNC NCBI

Linked Data

gnomAD v4: 17-7502724-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7502724G>A , CM000679.2:g.7502724G>A GRCh38
NC_000017.10:g.7406043G>A , CM000679.1:g.7406043G>A GRCh37
NC_000017.9:g.7346767G>A NCBI36
NG_027747.1:g.23346G>A
NG_027747.2:g.23346G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617998.6:n.3155+23G>A
ENST00000674977.2:c.2756+23G>A ENSP00000502190.2:n.2756+23G>A
ENST00000576114.1:n.245G>A
ENST00000617998.4:c.2756+23G>A ENSP00000480158.1:n.2756+23G>A
ENST00000621442.4:c.2756+23G>A ENSP00000483957.1:n.2756+23G>A
NM_000937.4:c.2756+23G>A NP_000928.1:n.2756+23G>A
NM_000937.5:c.2756+23G>A MANE Select NP_000928.1:n.2756+23G>A