Canonical Allele Identifier: CA320785
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74738620A>G , CM000667.2:g.74738620A>G GRCh38
NC_000005.9:g.74034445A>G , CM000667.1:g.74034445A>G GRCh37
NC_000005.8:g.74070201A>G NCBI36
NG_011531.1:g.33598T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296805.8:c.1102T>C MANE Select ENSP00000296805.3:p.Cys368Arg
ENST00000296805.7:c.1102T>C ENSP00000296805.3:p.Cys368Arg
ENST00000345239.6:c.1080-203T>C ENSP00000296804.3:n.1080-203T>C
ENST00000427854.6:c.1102T>C ENSP00000405808.2:p.Cys368Arg
ENST00000509430.5:c.1102T>C ENSP00000427004.1:p.Cys368Arg
NM_001281302.1:c.1198T>C NP_001268231.1:p.Cys400Arg
NM_032380.4:c.1102T>C NP_115756.2:p.Cys368Arg
NM_170681.2:c.1102T>C NP_733781.1:p.Cys368Arg
NM_170691.2:c.1080-203T>C NP_733792.1:n.1080-203T>C
NR_104006.1:n.1560T>C
XM_006714721.2:c.1102T>C XP_006714784.1:p.Cys368Arg
XM_011543690.1:c.1102T>C XP_011541992.1:p.Cys368Arg
XM_011543691.1:c.1102T>C XP_011541993.1:p.Cys368Arg
XM_011543691.3:c.1102T>C XP_011541993.1:p.Cys368Arg
XM_017009986.1:c.1102T>C XP_016865475.1:p.Cys368Arg
XR_002956185.1:n.1314-203T>C
NM_032380.5:c.1102T>C MANE Select NP_115756.2:p.Cys368Arg
NM_001281302.2:c.1198T>C NP_001268231.1:p.Cys400Arg
NM_170691.3:c.1080-203T>C NP_733792.1:n.1080-203T>C
NR_104006.2:n.1306T>C
NM_170681.3:c.1102T>C NP_733781.1:p.Cys368Arg