Canonical Allele Identifier: CA360072305

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749886352
• gnomAD v4: 5-74721668-C-G
• MyVariant Identifiers: chr5:g.74017493C>G (hg19) ; chr5:g.74721668C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721668C>G , CM000667.2:g.74721668C>G	GRCh38
NC_000005.9:g.74017493C>G , CM000667.1:g.74017493C>G	GRCh37
NC_000005.8:g.74053249C>G	NCBI36
NG_009770.1:g.41525C>G
NG_011531.1:g.50550G>C
NG_009770.2:g.86646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2327G>C (GFM2) MANE Select	ENSP00000296805.3:p.Ser776Thr
ENST00000296805.7:c.2327G>C (GFM2)	ENSP00000296805.3:p.Ser776Thr
ENST00000345239.6:c.2186G>C (GFM2)	ENSP00000296804.3:p.Ser729Thr
ENST00000503312.5:c.608+232C>G (HEXB)
ENST00000505859.1:c.255+232C>G (HEXB)
ENST00000509430.5:c.2327G>C (GFM2)	ENSP00000427004.1:p.Ser776Thr
ENST00000513867.1:n.380+232C>G (HEXB)
ENST00000515125.5:n.730G>C (GFM2)
NM_001281302.1:c.2423G>C (GFM2)	NP_001268231.1:p.Ser808Thr
NM_032380.4:c.2327G>C (GFM2)	NP_115756.2:p.Ser776Thr
NM_170691.2:c.2186G>C (GFM2)	NP_733792.1:p.Ser729Thr
NR_104006.1:n.2646G>C (GFM2)
XM_006714721.2:c.2192G>C (GFM2)	XP_006714784.1:p.Ser731Thr
XM_011543690.1:c.2327G>C (GFM2)	XP_011541992.1:p.Ser776Thr
XM_017009986.1:c.2327G>C (GFM2)	XP_016865475.1:p.Ser776Thr
XR_002956185.1:n.3613G>C (GFM2)
NM_032380.5:c.2327G>C (GFM2) MANE Select	NP_115756.2:p.Ser776Thr
NM_001281302.2:c.2423G>C (GFM2)	NP_001268231.1:p.Ser808Thr
NM_170691.3:c.2186G>C (GFM2)	NP_733792.1:p.Ser729Thr
NR_104006.2:n.2392G>C (GFM2)