Canonical Allele Identifier: CA360072233

Gene: GFM2 HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74017482A>G (hg19) ; chr5:g.74721657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721657A>G , CM000667.2:g.74721657A>G	GRCh38
NC_000005.9:g.74017482A>G , CM000667.1:g.74017482A>G	GRCh37
NC_000005.8:g.74053238A>G	NCBI36
NG_009770.1:g.41514A>G
NG_011531.1:g.50561T>C
NG_009770.2:g.86635A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2338T>C (GFM2) MANE Select	ENSP00000296805.3:p.Ter780Gln
ENST00000296805.7:c.2338T>C (GFM2)	ENSP00000296805.3:p.Ter780Gln
ENST00000345239.6:c.2197T>C (GFM2)	ENSP00000296804.3:p.Ter733Gln
ENST00000503312.5:c.608+221A>G (HEXB)
ENST00000505859.1:c.255+221A>G (HEXB)
ENST00000509430.5:c.2338T>C (GFM2)	ENSP00000427004.1:p.Ter780Gln
ENST00000513867.1:n.380+221A>G (HEXB)
ENST00000515125.5:n.741T>C (GFM2)
NM_001281302.1:c.2434T>C (GFM2)	NP_001268231.1:p.Ter812Gln
NM_032380.4:c.2338T>C (GFM2)	NP_115756.2:p.Ter780Gln
NM_170691.2:c.2197T>C (GFM2)	NP_733792.1:p.Ter733Gln
NR_104006.1:n.2657T>C (GFM2)
XM_006714721.2:c.2203T>C (GFM2)	XP_006714784.1:p.Ter735Gln
XM_011543690.1:c.2338T>C (GFM2)	XP_011541992.1:p.Ter780Gln
XM_017009986.1:c.2338T>C (GFM2)	XP_016865475.1:p.Ter780Gln
XR_002956185.1:n.3624T>C (GFM2)
NM_032380.5:c.2338T>C (GFM2) MANE Select	NP_115756.2:p.Ter780Gln
NM_001281302.2:c.2434T>C (GFM2)	NP_001268231.1:p.Ter812Gln
NM_170691.3:c.2197T>C (GFM2)	NP_733792.1:p.Ter733Gln
NR_104006.2:n.2403T>C (GFM2)