Canonical Allele Identifier: CA427793251

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029429C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412967C>G , CM000664.2:g.101412967C>G	GRCh38
NC_000002.11:g.102029429C>G , CM000664.1:g.102029429C>G	GRCh37
NC_000002.10:g.101395861C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1005G>C	ENSP00000494249.2:p.Leu335=
ENST00000428343.6:c.666G>C MANE Select	ENSP00000401536.1:p.Leu222=
ENST00000646446.1:c.879G>C	ENSP00000494216.1:p.Leu293=
ENST00000646893.1:c.792G>C	ENSP00000494249.1:p.Leu264=
ENST00000428343.5:c.666G>C	ENSP00000401536.1:p.Leu222=
ENST00000481179.5:c.*382G>C	ENSP00000422968.1:n.*382G>C
NM_001145664.1:c.666G>C	NP_001139136.1:p.Leu222=
XM_011511771.1:c.894G>C	XP_011510073.1:p.Leu298=
XM_011511772.1:c.879G>C	XP_011510074.1:p.Leu293=
XM_011511773.1:c.576G>C	XP_011510075.1:p.Leu192=
XM_011511774.1:c.894G>C	XP_011510076.1:p.Leu298=
XM_011511775.1:c.894G>C	XP_011510077.1:p.Leu298=
XM_011511776.1:c.378G>C	XP_011510078.1:p.Leu126=
XM_011511777.1:c.378G>C	XP_011510079.1:p.Leu126=
XM_011511778.1:c.378G>C	XP_011510080.1:p.Leu126=
XM_011511779.1:c.*79G>C	XP_011510081.1:n.*79G>C
XM_011511771.2:c.894G>C	XP_011510073.1:p.Leu298=
XM_011511777.2:c.378G>C	XP_011510079.1:p.Leu126=
XM_017004851.1:c.1005G>C	XP_016860340.1:p.Leu335=
XM_017004852.1:c.792G>C	XP_016860341.1:p.Leu264=
XM_017004853.1:c.1005G>C	XP_016860342.1:p.Leu335=
XM_017004854.1:c.1005G>C	XP_016860343.1:p.Leu335=
XR_001738924.1:n.949G>C
NM_001145664.2:c.666G>C MANE Select	NP_001139136.2:p.Leu222=
NM_001367508.1:c.153G>C	NP_001354437.1:p.Leu51=
NM_001367509.1:c.153G>C	NP_001354438.1:p.Leu51=
NM_001367510.1:c.153G>C	NP_001354439.1:p.Leu51=