Canonical Allele Identifier: CA360078162

Gene: GFM2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74730371G>A , CM000667.2:g.74730371G>A	GRCh38
NC_000005.9:g.74026196G>A , CM000667.1:g.74026196G>A	GRCh37
NC_000005.8:g.74061952G>A	NCBI36
NG_011531.1:g.41847C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032380.5:c.1615C>T MANE Select	NP_115756.2:p.His539Tyr
ENST00000296805.8:c.1615C>T MANE Select	ENSP00000296805.3:p.His539Tyr
NM_001281302.1:c.1711C>T	NP_001268231.1:p.His571Tyr
NM_001281302.2:c.1711C>T	NP_001268231.1:p.His571Tyr
NM_032380.4:c.1615C>T	NP_115756.2:p.His539Tyr
NM_170691.2:c.1474C>T	NP_733792.1:p.His492Tyr
NM_170691.3:c.1474C>T	NP_733792.1:p.His492Tyr
NR_104006.1:n.2045+2651C>T
NR_104006.2:n.1791+2651C>T
ENST00000296805.7:c.1615C>T	ENSP00000296805.3:p.His539Tyr
ENST00000345239.6:c.1474C>T	ENSP00000296804.3:p.His492Tyr
ENST00000506263.1:n.395C>T
ENST00000509430.5:c.1615C>T	ENSP00000427004.1:p.His539Tyr
ENST00000514734.5:n.526C>T
ENST00000515125.5:n.245+2651C>T
XM_006714721.2:c.1591+2647C>T	XP_006714784.1:n.1591+2647C>T
XM_011543690.1:c.1615C>T	XP_011541992.1:p.His539Tyr
XM_017009986.1:c.1615C>T	XP_016865475.1:p.His539Tyr
XR_002956185.1:n.3012+2651C>T