Canonical Allele Identifier: CA1555784337

Gene: GFM2 HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721707A= , CM000667.2:g.74721707A=	GRCh38
NC_000005.9:g.74017532A= , CM000667.1:g.74017532A=	GRCh37
NC_000005.8:g.74053288A=	NCBI36
NG_009770.1:g.41564A=
NG_011531.1:g.50511T=
NG_009770.2:g.86685A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2288T= (GFM2) MANE Select	ENSP00000296805.3:p.Met763=
ENST00000296805.7:c.2288T= (GFM2)	ENSP00000296805.3:p.Met763=
ENST00000345239.6:c.2147T= (GFM2)	ENSP00000296804.3:p.Met716=
ENST00000503312.5:c.608+271A= (HEXB)
ENST00000505859.1:c.255+271A= (HEXB)
ENST00000509430.5:c.2288T= (GFM2)	ENSP00000427004.1:p.Met763=
ENST00000513867.1:n.380+271A= (HEXB)
ENST00000515125.5:n.691T= (GFM2)
NM_001281302.1:c.2384T= (GFM2)	NP_001268231.1:p.Met795=
NM_032380.4:c.2288T= (GFM2)	NP_115756.2:p.Met763=
NM_170691.2:c.2147T= (GFM2)	NP_733792.1:p.Met716=
NR_104006.1:n.2607T= (GFM2)
XM_006714721.2:c.2153T= (GFM2)	XP_006714784.1:p.Met718=
XM_011543690.1:c.2288T= (GFM2)	XP_011541992.1:p.Met763=
XM_017009986.1:c.2288T= (GFM2)	XP_016865475.1:p.Met763=
XR_002956185.1:n.3574T= (GFM2)
NM_032380.5:c.2288T= (GFM2) MANE Select	NP_115756.2:p.Met763=
NM_001281302.2:c.2384T= (GFM2)	NP_001268231.1:p.Met795=
NM_170691.3:c.2147T= (GFM2)	NP_733792.1:p.Met716=
NR_104006.2:n.2353T= (GFM2)