Canonical Allele Identifier: CA444849947

Gene: GFM2 HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74017516T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721691T>C , CM000667.2:g.74721691T>C	GRCh38
NC_000005.9:g.74017516T>C , CM000667.1:g.74017516T>C	GRCh37
NC_000005.8:g.74053272T>C	NCBI36
NG_009770.1:g.41548T>C
NG_011531.1:g.50527A>G
NG_009770.2:g.86669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2304A>G (GFM2) MANE Select	ENSP00000296805.3:p.Gln768=
ENST00000296805.7:c.2304A>G (GFM2)	ENSP00000296805.3:p.Gln768=
ENST00000345239.6:c.2163A>G (GFM2)	ENSP00000296804.3:p.Gln721=
ENST00000503312.5:c.608+255T>C (HEXB)
ENST00000505859.1:c.255+255T>C (HEXB)
ENST00000509430.5:c.2304A>G (GFM2)	ENSP00000427004.1:p.Gln768=
ENST00000513867.1:n.380+255T>C (HEXB)
ENST00000515125.5:n.707A>G (GFM2)
NM_001281302.1:c.2400A>G (GFM2)	NP_001268231.1:p.Gln800=
NM_032380.4:c.2304A>G (GFM2)	NP_115756.2:p.Gln768=
NM_170691.2:c.2163A>G (GFM2)	NP_733792.1:p.Gln721=
NR_104006.1:n.2623A>G (GFM2)
XM_006714721.2:c.2169A>G (GFM2)	XP_006714784.1:p.Gln723=
XM_011543690.1:c.2304A>G (GFM2)	XP_011541992.1:p.Gln768=
XM_017009986.1:c.2304A>G (GFM2)	XP_016865475.1:p.Gln768=
XR_002956185.1:n.3590A>G (GFM2)
NM_032380.5:c.2304A>G (GFM2) MANE Select	NP_115756.2:p.Gln768=
NM_001281302.2:c.2400A>G (GFM2)	NP_001268231.1:p.Gln800=
NM_170691.3:c.2163A>G (GFM2)	NP_733792.1:p.Gln721=
NR_104006.2:n.2369A>G (GFM2)