Canonical Allele Identifier: CA291075
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74741544C>T , CM000667.2:g.74741544C>T GRCh38
NC_000005.9:g.74037369C>T , CM000667.1:g.74037369C>T GRCh37
NC_000005.8:g.74073125C>T NCBI36
NG_011531.1:g.30674G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.915G>A MANE Select ENSP00000296805.3:p.Leu305=
ENST00000296805.7:c.915G>A ENSP00000296805.3:p.Leu305=
ENST00000345239.6:c.915G>A ENSP00000296804.3:p.Leu305=
ENST00000427854.6:c.915G>A ENSP00000405808.2:p.Leu305=
ENST00000509097.1:c.789G>A ENSP00000421717.1:p.Leu263=
ENST00000509430.5:c.915G>A ENSP00000427004.1:p.Leu305=
ENST00000513331.1:n.305G>A
NM_001281302.1:c.1011G>A NP_001268231.1:p.Leu337=
NM_032380.4:c.915G>A NP_115756.2:p.Leu305=
NM_170681.2:c.915G>A NP_733781.1:p.Leu305=
NM_170691.2:c.915G>A NP_733792.1:p.Leu305=
NR_104006.1:n.1373G>A
XM_006714721.2:c.915G>A XP_006714784.1:p.Leu305=
XM_011543690.1:c.915G>A XP_011541992.1:p.Leu305=
XM_011543691.1:c.915G>A XP_011541993.1:p.Leu305=
XM_011543691.3:c.915G>A XP_011541993.1:p.Leu305=
XM_017009986.1:c.915G>A XP_016865475.1:p.Leu305=
XR_002956185.1:n.1149G>A
NM_032380.5:c.915G>A MANE Select NP_115756.2:p.Leu305=
NM_001281302.2:c.1011G>A NP_001268231.1:p.Leu337=
NM_170691.3:c.915G>A NP_733792.1:p.Leu305=
NR_104006.2:n.1119G>A
NM_170681.3:c.915G>A NP_733781.1:p.Leu305=