Canonical Allele Identifier: CA2674242205

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721583-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721583G>T , CM000667.2:g.74721583G>T	GRCh38
NC_000005.9:g.74017408G>T , CM000667.1:g.74017408G>T	GRCh37
NC_000005.8:g.74053164G>T	NCBI36
NG_009770.1:g.41440G>T
NG_011531.1:g.50635C>A
NG_009770.2:g.86561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.*72C>A (GFM2) MANE Select	ENSP00000296805.3:n.*72C>A
ENST00000296805.7:c.*72C>A (GFM2)	ENSP00000296805.3:n.*72C>A
ENST00000345239.6:c.*72C>A (GFM2)	ENSP00000296804.3:n.*72C>A
ENST00000503312.5:c.608+147G>T (HEXB)
ENST00000505859.1:c.255+147G>T (HEXB)
ENST00000509430.5:c.*72C>A (GFM2)	ENSP00000427004.1:n.*72C>A
ENST00000513867.1:n.380+147G>T (HEXB)
ENST00000515125.5:n.815C>A (GFM2)
NM_001281302.1:c.*72C>A (GFM2)	NP_001268231.1:n.*72C>A
NM_032380.4:c.*72C>A (GFM2)	NP_115756.2:n.*72C>A
NM_170691.2:c.*72C>A (GFM2)	NP_733792.1:n.*72C>A
NR_104006.1:n.2731C>A (GFM2)
XM_006714721.2:c.*72C>A (GFM2)	XP_006714784.1:n.*72C>A
XM_011543690.1:c.*72C>A (GFM2)	XP_011541992.1:n.*72C>A
XM_017009986.1:c.*72C>A (GFM2)	XP_016865475.1:n.*72C>A
XR_002956185.1:n.3698C>A (GFM2)
NM_032380.5:c.*72C>A (GFM2) MANE Select	NP_115756.2:n.*72C>A
NM_001281302.2:c.*72C>A (GFM2)	NP_001268231.1:n.*72C>A
NM_170691.3:c.*72C>A (GFM2)	NP_733792.1:n.*72C>A
NR_104006.2:n.2477C>A (GFM2)