Canonical Allele Identifier: CA291087

Gene: GFM2 HEXB

Linked Data

• ClinVar Variation Id: 137480
• ClinVar RCV Id: RCV000125241
• dbSNP Id: rs1048167
• ExAC: 5:74017499 C / T
• gnomAD v2: 5-74017499-C-T
• gnomAD v3: 5-74721674-C-T
• gnomAD v4: 5-74721674-C-T
• MyVariant Identifiers: chr5:g.74017499C>T (hg19) ; chr5:g.74721674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721674C>T , CM000667.2:g.74721674C>T	GRCh38
NC_000005.9:g.74017499C>T , CM000667.1:g.74017499C>T	GRCh37
NC_000005.8:g.74053255C>T	NCBI36
NG_009770.1:g.41531C>T
NG_011531.1:g.50544G>A
NG_009770.2:g.86652C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296805.8:c.2321G>A (GFM2) MANE Select	ENSP00000296805.3:p.Arg774Gln
ENST00000296805.7:c.2321G>A (GFM2)	ENSP00000296805.3:p.Arg774Gln
ENST00000345239.6:c.2180G>A (GFM2)	ENSP00000296804.3:p.Arg727Gln
ENST00000503312.5:c.608+238C>T (HEXB)
ENST00000505859.1:c.255+238C>T (HEXB)
ENST00000509430.5:c.2321G>A (GFM2)	ENSP00000427004.1:p.Arg774Gln
ENST00000513867.1:n.380+238C>T (HEXB)
ENST00000515125.5:n.724G>A (GFM2)
NM_001281302.1:c.2417G>A (GFM2)	NP_001268231.1:p.Arg806Gln
NM_032380.4:c.2321G>A (GFM2)	NP_115756.2:p.Arg774Gln
NM_170691.2:c.2180G>A (GFM2)	NP_733792.1:p.Arg727Gln
NR_104006.1:n.2640G>A (GFM2)
XM_006714721.2:c.2186G>A (GFM2)	XP_006714784.1:p.Arg729Gln
XM_011543690.1:c.2321G>A (GFM2)	XP_011541992.1:p.Arg774Gln
XM_017009986.1:c.2321G>A (GFM2)	XP_016865475.1:p.Arg774Gln
XR_002956185.1:n.3607G>A (GFM2)
NM_032380.5:c.2321G>A (GFM2) MANE Select	NP_115756.2:p.Arg774Gln
NM_001281302.2:c.2417G>A (GFM2)	NP_001268231.1:p.Arg806Gln
NM_170691.3:c.2180G>A (GFM2)	NP_733792.1:p.Arg727Gln
NR_104006.2:n.2386G>A (GFM2)