Canonical Allele Identifier: CA347974575

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029523A>G (hg19) ; chr2:g.101413061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101413061A>G , CM000664.2:g.101413061A>G	GRCh38
NC_000002.11:g.102029523A>G , CM000664.1:g.102029523A>G	GRCh37
NC_000002.10:g.101395955A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.911T>C	ENSP00000494249.2:p.Met304Thr
ENST00000428343.6:c.572T>C MANE Select	ENSP00000401536.1:p.Met191Thr
ENST00000646446.1:c.785T>C	ENSP00000494216.1:p.Met262Thr
ENST00000646893.1:c.698T>C	ENSP00000494249.1:p.Met233Thr
ENST00000428343.5:c.572T>C	ENSP00000401536.1:p.Met191Thr
ENST00000481179.5:c.*288T>C	ENSP00000422968.1:n.*288T>C
NM_001145664.1:c.572T>C	NP_001139136.1:p.Met191Thr
XM_011511771.1:c.800T>C	XP_011510073.1:p.Met267Thr
XM_011511772.1:c.785T>C	XP_011510074.1:p.Met262Thr
XM_011511773.1:c.482T>C	XP_011510075.1:p.Met161Thr
XM_011511774.1:c.800T>C	XP_011510076.1:p.Met267Thr
XM_011511775.1:c.800T>C	XP_011510077.1:p.Met267Thr
XM_011511776.1:c.284T>C	XP_011510078.1:p.Met95Thr
XM_011511777.1:c.284T>C	XP_011510079.1:p.Met95Thr
XM_011511778.1:c.284T>C	XP_011510080.1:p.Met95Thr
XM_011511779.1:c.741T>C	XP_011510081.1:p.Asn247=
XM_011511771.2:c.800T>C	XP_011510073.1:p.Met267Thr
XM_011511777.2:c.284T>C	XP_011510079.1:p.Met95Thr
XM_017004851.1:c.911T>C	XP_016860340.1:p.Met304Thr
XM_017004852.1:c.698T>C	XP_016860341.1:p.Met233Thr
XM_017004853.1:c.911T>C	XP_016860342.1:p.Met304Thr
XM_017004854.1:c.911T>C	XP_016860343.1:p.Met304Thr
XR_001738924.1:n.855T>C
NM_001145664.2:c.572T>C MANE Select	NP_001139136.2:p.Met191Thr
NM_001367508.1:c.59T>C	NP_001354437.1:p.Met20Thr
NM_001367509.1:c.59T>C	NP_001354438.1:p.Met20Thr
NM_001367510.1:c.59T>C	NP_001354439.1:p.Met20Thr