Canonical Allele Identifier: CA320030

Gene: GFM2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74747758C>T , CM000667.2:g.74747758C>T	GRCh38
NC_000005.9:g.74043583C>T , CM000667.1:g.74043583C>T	GRCh37
NC_000005.8:g.74079339C>T	NCBI36
NG_011531.1:g.24460G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.542G>A MANE Select	ENSP00000296805.3:p.Arg181Lys
ENST00000296805.7:c.542G>A	ENSP00000296805.3:p.Arg181Lys
ENST00000345239.6:c.542G>A	ENSP00000296804.3:p.Arg181Lys
ENST00000427854.6:c.542G>A	ENSP00000405808.2:p.Arg181Lys
ENST00000509097.1:c.416G>A	ENSP00000421717.1:p.Arg139Lys
ENST00000509430.5:c.542G>A	ENSP00000427004.1:p.Arg181Lys
NM_001281302.1:c.638G>A	NP_001268231.1:p.Arg213Lys
NM_032380.4:c.542G>A	NP_115756.2:p.Arg181Lys
NM_170681.2:c.542G>A	NP_733781.1:p.Arg181Lys
NM_170691.2:c.542G>A	NP_733792.1:p.Arg181Lys
NR_104006.1:n.1000G>A
XM_006714721.2:c.542G>A	XP_006714784.1:p.Arg181Lys
XM_011543690.1:c.542G>A	XP_011541992.1:p.Arg181Lys
XM_011543691.1:c.542G>A	XP_011541993.1:p.Arg181Lys
XM_011543691.3:c.542G>A	XP_011541993.1:p.Arg181Lys
XM_017009986.1:c.542G>A	XP_016865475.1:p.Arg181Lys
XR_002956185.1:n.776G>A
NM_032380.5:c.542G>A MANE Select	NP_115756.2:p.Arg181Lys
NM_001281302.2:c.638G>A	NP_001268231.1:p.Arg213Lys
NM_170691.3:c.542G>A	NP_733792.1:p.Arg181Lys
NR_104006.2:n.746G>A
NM_170681.3:c.542G>A	NP_733781.1:p.Arg181Lys