Canonical Allele Identifier: CA324680
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74738409A>T , CM000667.2:g.74738409A>T GRCh38
NC_000005.9:g.74034234A>T , CM000667.1:g.74034234A>T GRCh37
NC_000005.8:g.74069990A>T NCBI36
NG_011531.1:g.33809T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.1229T>A MANE Select ENSP00000296805.3:p.Ile410Lys
ENST00000296805.7:c.1229T>A ENSP00000296805.3:p.Ile410Lys
ENST00000345239.6:c.1088T>A ENSP00000296804.3:p.Ile363Lys
ENST00000427854.6:c.1229T>A ENSP00000405808.2:p.Ile410Lys
ENST00000509430.5:c.1229T>A ENSP00000427004.1:p.Ile410Lys
NM_001281302.1:c.1325T>A NP_001268231.1:p.Ile442Lys
NM_032380.4:c.1229T>A NP_115756.2:p.Ile410Lys
NM_170681.2:c.1229T>A NP_733781.1:p.Ile410Lys
NM_170691.2:c.1088T>A NP_733792.1:p.Ile363Lys
NR_104006.1:n.1687T>A
XM_006714721.2:c.1229T>A XP_006714784.1:p.Ile410Lys
XM_011543690.1:c.1229T>A XP_011541992.1:p.Ile410Lys
XM_011543691.1:c.1229T>A XP_011541993.1:p.Ile410Lys
XM_011543691.3:c.1229T>A XP_011541993.1:p.Ile410Lys
XM_017009986.1:c.1229T>A XP_016865475.1:p.Ile410Lys
XR_002956185.1:n.1322T>A
NM_032380.5:c.1229T>A MANE Select NP_115756.2:p.Ile410Lys
NM_001281302.2:c.1325T>A NP_001268231.1:p.Ile442Lys
NM_170691.3:c.1088T>A NP_733792.1:p.Ile363Lys
NR_104006.2:n.1433T>A
NM_170681.3:c.1229T>A NP_733781.1:p.Ile410Lys