Canonical Allele Identifier: CA347974265

Gene: RFX8

Linked Data

• MyVariant Identifiers: chr2:g.102029382A>T (hg19) ; chr2:g.101412920A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.101412920A>T , CM000664.2:g.101412920A>T	GRCh38
NC_000002.11:g.102029382A>T , CM000664.1:g.102029382A>T	GRCh37
NC_000002.10:g.101395814A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646893.2:c.1052T>A	ENSP00000494249.2:p.Met351Lys
ENST00000428343.6:c.713T>A MANE Select	ENSP00000401536.1:p.Met238Lys
ENST00000646446.1:c.926T>A	ENSP00000494216.1:p.Met309Lys
ENST00000646893.1:c.839T>A	ENSP00000494249.1:p.Met280Lys
ENST00000428343.5:c.713T>A	ENSP00000401536.1:p.Met238Lys
ENST00000481179.5:c.*429T>A	ENSP00000422968.1:n.*429T>A
NM_001145664.1:c.713T>A	NP_001139136.1:p.Met238Lys
XM_011511771.1:c.941T>A	XP_011510073.1:p.Met314Lys
XM_011511772.1:c.926T>A	XP_011510074.1:p.Met309Lys
XM_011511773.1:c.623T>A	XP_011510075.1:p.Met208Lys
XM_011511774.1:c.941T>A	XP_011510076.1:p.Met314Lys
XM_011511775.1:c.941T>A	XP_011510077.1:p.Met314Lys
XM_011511776.1:c.425T>A	XP_011510078.1:p.Met142Lys
XM_011511777.1:c.425T>A	XP_011510079.1:p.Met142Lys
XM_011511778.1:c.425T>A	XP_011510080.1:p.Met142Lys
XM_011511771.2:c.941T>A	XP_011510073.1:p.Met314Lys
XM_011511777.2:c.425T>A	XP_011510079.1:p.Met142Lys
XM_017004851.1:c.1052T>A	XP_016860340.1:p.Met351Lys
XM_017004852.1:c.839T>A	XP_016860341.1:p.Met280Lys
XM_017004853.1:c.1052T>A	XP_016860342.1:p.Met351Lys
XM_017004854.1:c.1052T>A	XP_016860343.1:p.Met351Lys
XR_001738924.1:n.996T>A
NM_001145664.2:c.713T>A MANE Select	NP_001139136.2:p.Met238Lys
NM_001367508.1:c.200T>A	NP_001354437.1:p.Met67Lys
NM_001367509.1:c.200T>A	NP_001354438.1:p.Met67Lys
NM_001367510.1:c.200T>A	NP_001354439.1:p.Met67Lys