Canonical Allele Identifier: CA1077558910

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749880502
• gnomAD v3: 5-74721582-A-G
• gnomAD v4: 5-74721582-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721582A>G , CM000667.2:g.74721582A>G	GRCh38
NC_000005.9:g.74017407A>G , CM000667.1:g.74017407A>G	GRCh37
NC_000005.8:g.74053163A>G	NCBI36
NG_009770.1:g.41439A>G
NG_011531.1:g.50636T>C
NG_009770.2:g.86560A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*73T>C (GFM2) MANE Select	ENSP00000296805.3:n.*73T>C
ENST00000296805.7:c.*73T>C (GFM2)	ENSP00000296805.3:n.*73T>C
ENST00000345239.6:c.*73T>C (GFM2)	ENSP00000296804.3:n.*73T>C
ENST00000503312.5:c.608+146A>G (HEXB)
ENST00000505859.1:c.255+146A>G (HEXB)
ENST00000509430.5:c.*73T>C (GFM2)	ENSP00000427004.1:n.*73T>C
ENST00000513867.1:n.380+146A>G (HEXB)
ENST00000515125.5:n.816T>C (GFM2)
NM_001281302.1:c.*73T>C (GFM2)	NP_001268231.1:n.*73T>C
NM_032380.4:c.*73T>C (GFM2)	NP_115756.2:n.*73T>C
NM_170691.2:c.*73T>C (GFM2)	NP_733792.1:n.*73T>C
NR_104006.1:n.2732T>C (GFM2)
XM_006714721.2:c.*73T>C (GFM2)	XP_006714784.1:n.*73T>C
XM_011543690.1:c.*73T>C (GFM2)	XP_011541992.1:n.*73T>C
XM_017009986.1:c.*73T>C (GFM2)	XP_016865475.1:n.*73T>C
XR_002956185.1:n.3699T>C (GFM2)
NM_032380.5:c.*73T>C (GFM2) MANE Select	NP_115756.2:n.*73T>C
NM_001281302.2:c.*73T>C (GFM2)	NP_001268231.1:n.*73T>C
NM_170691.3:c.*73T>C (GFM2)	NP_733792.1:n.*73T>C
NR_104006.2:n.2478T>C (GFM2)