Canonical Allele Identifier: CA360072455

Gene: GFM2 HEXB

Linked Data

• gnomAD v4: 5-74721693-G-T
• MyVariant Identifiers: chr5:g.74017518G>T (hg19) ; chr5:g.74721693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721693G>T , CM000667.2:g.74721693G>T	GRCh38
NC_000005.9:g.74017518G>T , CM000667.1:g.74017518G>T	GRCh37
NC_000005.8:g.74053274G>T	NCBI36
NG_009770.1:g.41550G>T
NG_011531.1:g.50525C>A
NG_009770.2:g.86671G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2302C>A (GFM2) MANE Select	ENSP00000296805.3:p.Gln768Lys
ENST00000296805.7:c.2302C>A (GFM2)	ENSP00000296805.3:p.Gln768Lys
ENST00000345239.6:c.2161C>A (GFM2)	ENSP00000296804.3:p.Gln721Lys
ENST00000503312.5:c.608+257G>T (HEXB)
ENST00000505859.1:c.255+257G>T (HEXB)
ENST00000509430.5:c.2302C>A (GFM2)	ENSP00000427004.1:p.Gln768Lys
ENST00000513867.1:n.380+257G>T (HEXB)
ENST00000515125.5:n.705C>A (GFM2)
NM_001281302.1:c.2398C>A (GFM2)	NP_001268231.1:p.Gln800Lys
NM_032380.4:c.2302C>A (GFM2)	NP_115756.2:p.Gln768Lys
NM_170691.2:c.2161C>A (GFM2)	NP_733792.1:p.Gln721Lys
NR_104006.1:n.2621C>A (GFM2)
XM_006714721.2:c.2167C>A (GFM2)	XP_006714784.1:p.Gln723Lys
XM_011543690.1:c.2302C>A (GFM2)	XP_011541992.1:p.Gln768Lys
XM_017009986.1:c.2302C>A (GFM2)	XP_016865475.1:p.Gln768Lys
XR_002956185.1:n.3588C>A (GFM2)
NM_032380.5:c.2302C>A (GFM2) MANE Select	NP_115756.2:p.Gln768Lys
NM_001281302.2:c.2398C>A (GFM2)	NP_001268231.1:p.Gln800Lys
NM_170691.3:c.2161C>A (GFM2)	NP_733792.1:p.Gln721Lys
NR_104006.2:n.2367C>A (GFM2)