Canonical Allele Identifier: CA2674242223

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721606-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721606A>C , CM000667.2:g.74721606A>C	GRCh38
NC_000005.9:g.74017431A>C , CM000667.1:g.74017431A>C	GRCh37
NC_000005.8:g.74053187A>C	NCBI36
NG_009770.1:g.41463A>C
NG_011531.1:g.50612T>G
NG_009770.2:g.86584A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*49T>G (GFM2) MANE Select	ENSP00000296805.3:n.*49T>G
ENST00000296805.7:c.*49T>G (GFM2)	ENSP00000296805.3:n.*49T>G
ENST00000345239.6:c.*49T>G (GFM2)	ENSP00000296804.3:n.*49T>G
ENST00000503312.5:c.608+170A>C (HEXB)
ENST00000505859.1:c.255+170A>C (HEXB)
ENST00000509430.5:c.*49T>G (GFM2)	ENSP00000427004.1:n.*49T>G
ENST00000513867.1:n.380+170A>C (HEXB)
ENST00000515125.5:n.792T>G (GFM2)
NM_001281302.1:c.*49T>G (GFM2)	NP_001268231.1:n.*49T>G
NM_032380.4:c.*49T>G (GFM2)	NP_115756.2:n.*49T>G
NM_170691.2:c.*49T>G (GFM2)	NP_733792.1:n.*49T>G
NR_104006.1:n.2708T>G (GFM2)
XM_006714721.2:c.*49T>G (GFM2)	XP_006714784.1:n.*49T>G
XM_011543690.1:c.*49T>G (GFM2)	XP_011541992.1:n.*49T>G
XM_017009986.1:c.*49T>G (GFM2)	XP_016865475.1:n.*49T>G
XR_002956185.1:n.3675T>G (GFM2)
NM_032380.5:c.*49T>G (GFM2) MANE Select	NP_115756.2:n.*49T>G
NM_001281302.2:c.*49T>G (GFM2)	NP_001268231.1:n.*49T>G
NM_170691.3:c.*49T>G (GFM2)	NP_733792.1:n.*49T>G
NR_104006.2:n.2454T>G (GFM2)