Canonical Allele Identifier: CA3306313

Gene: GFM2 HEXB

Linked Data

• ClinVar Variation Id: 555312
• ClinVar RCV Id: RCV000671110
• dbSNP Id: rs35080306
• ExAC: 5:74017590 G / A
• gnomAD v2: 5-74017590-G-A
• gnomAD v4: 5-74721765-G-A
• MyVariant Identifiers: chr5:g.74017590G>A (hg19) ; chr5:g.74721765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721765G>A , CM000667.2:g.74721765G>A	GRCh38
NC_000005.9:g.74017590G>A , CM000667.1:g.74017590G>A	GRCh37
NC_000005.8:g.74053346G>A	NCBI36
NG_009770.1:g.41622G>A
NG_011531.1:g.50453C>T
NG_009770.2:g.86743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2230C>T (GFM2) MANE Select	ENSP00000296805.3:p.Arg744Ter
ENST00000296805.7:c.2230C>T (GFM2)	ENSP00000296805.3:p.Arg744Ter
ENST00000345239.6:c.2089C>T (GFM2)	ENSP00000296804.3:p.Arg697Ter
ENST00000503312.5:c.608+329G>A (HEXB)
ENST00000505859.1:c.255+329G>A (HEXB)
ENST00000509430.5:c.2230C>T (GFM2)	ENSP00000427004.1:p.Arg744Ter
ENST00000513867.1:n.380+329G>A (HEXB)
ENST00000515125.5:n.633C>T (GFM2)
NM_001281302.1:c.2326C>T (GFM2)	NP_001268231.1:p.Arg776Ter
NM_032380.4:c.2230C>T (GFM2)	NP_115756.2:p.Arg744Ter
NM_170691.2:c.2089C>T (GFM2)	NP_733792.1:p.Arg697Ter
NR_104006.1:n.2549C>T (GFM2)
XM_006714721.2:c.2095C>T (GFM2)	XP_006714784.1:p.Arg699Ter
XM_011543690.1:c.2230C>T (GFM2)	XP_011541992.1:p.Arg744Ter
XM_017009986.1:c.2230C>T (GFM2)	XP_016865475.1:p.Arg744Ter
XR_002956185.1:n.3516C>T (GFM2)
NM_032380.5:c.2230C>T (GFM2) MANE Select	NP_115756.2:p.Arg744Ter
NM_001281302.2:c.2326C>T (GFM2)	NP_001268231.1:p.Arg776Ter
NM_170691.3:c.2089C>T (GFM2)	NP_733792.1:p.Arg697Ter
NR_104006.2:n.2295C>T (GFM2)