Canonical Allele Identifier: CA1555784321

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749887450
• gnomAD v4: 5-74721675-G-GGTTGAGCAGTGTATTTTGATCTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721677_74721701dup , CM000667.2:g.74721677_74721701dup	GRCh38
NC_000005.9:g.74017502_74017526dup , CM000667.1:g.74017502_74017526dup	GRCh37
NC_000005.8:g.74053258_74053282dup	NCBI36
NG_009770.1:g.41534_41558dup
NG_011531.1:g.50518_50542dup
NG_009770.2:g.86655_86679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2295_2319dup (GFM2) MANE Select	ENSP00000296805.3:p.Arg774SerfsTer28
ENST00000296805.7:c.2295_2319dup (GFM2)	ENSP00000296805.3:p.Arg774SerfsTer28
ENST00000345239.6:c.2154_2178dup (GFM2)	ENSP00000296804.3:p.Arg727SerfsTer28
ENST00000503312.5:c.608+241_608+265dup (HEXB)
ENST00000505859.1:c.255+241_255+265dup (HEXB)
ENST00000509430.5:c.2295_2319dup (GFM2)	ENSP00000427004.1:p.Arg774SerfsTer28
ENST00000513867.1:n.380+241_380+265dup (HEXB)
ENST00000515125.5:n.698_722dup (GFM2)
NM_001281302.1:c.2391_2415dup (GFM2)	NP_001268231.1:p.Arg806SerfsTer28
NM_032380.4:c.2295_2319dup (GFM2)	NP_115756.2:p.Arg774SerfsTer28
NM_170691.2:c.2154_2178dup (GFM2)	NP_733792.1:p.Arg727SerfsTer28
NR_104006.1:n.2614_2638dup (GFM2)
XM_006714721.2:c.2160_2184dup (GFM2)	XP_006714784.1:p.Arg729SerfsTer28
XM_011543690.1:c.2295_2319dup (GFM2)	XP_011541992.1:p.Arg774SerfsTer28
XM_017009986.1:c.2295_2319dup (GFM2)	XP_016865475.1:p.Arg774SerfsTer28
XR_002956185.1:n.3581_3605dup (GFM2)
NM_032380.5:c.2295_2319dup (GFM2) MANE Select	NP_115756.2:p.Arg774SerfsTer28
NM_001281302.2:c.2391_2415dup (GFM2)	NP_001268231.1:p.Arg806SerfsTer28
NM_170691.3:c.2154_2178dup (GFM2)	NP_733792.1:p.Arg727SerfsTer28
NR_104006.2:n.2360_2384dup (GFM2)