Canonical Allele Identifier: CA1555784295

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749883065

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721636_74721673dup , CM000667.2:g.74721636_74721673dup	GRCh38
NC_000005.9:g.74017461_74017498dup , CM000667.1:g.74017461_74017498dup	GRCh37
NC_000005.8:g.74053217_74053254dup	NCBI36
NG_009770.1:g.41493_41530dup
NG_011531.1:g.50547_50584dup
NG_009770.2:g.86614_86651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2324_*21dup (GFM2) MANE Select	ENSP00000296805.3:n.2324_*21dup
ENST00000296805.7:c.2324_*21dup (GFM2)	ENSP00000296805.3:n.2324_*21dup
ENST00000345239.6:c.2183_*21dup (GFM2)	ENSP00000296804.3:n.2183_*21dup
ENST00000503312.5:c.608+200_608+237dup (HEXB)
ENST00000505859.1:c.255+200_255+237dup (HEXB)
ENST00000509430.5:c.2324_*21dup (GFM2)	ENSP00000427004.1:n.2324_*21dup
ENST00000513867.1:n.380+200_380+237dup (HEXB)
ENST00000515125.5:n.727_764dup (GFM2)
NM_001281302.1:c.2420_*21dup (GFM2)	NP_001268231.1:n.2420_*21dup
NM_032380.4:c.2324_*21dup (GFM2)	NP_115756.2:n.2324_*21dup
NM_170691.2:c.2183_*21dup (GFM2)	NP_733792.1:n.2183_*21dup
NR_104006.1:n.2643_2680dup (GFM2)
XM_006714721.2:c.2189_*21dup (GFM2)	XP_006714784.1:n.2189_*21dup
XM_011543690.1:c.2324_*21dup (GFM2)	XP_011541992.1:n.2324_*21dup
XM_017009986.1:c.2324_*21dup (GFM2)	XP_016865475.1:n.2324_*21dup
XR_002956185.1:n.3610_3647dup (GFM2)
NM_032380.5:c.2324_*21dup (GFM2) MANE Select	NP_115756.2:n.2324_*21dup
NM_001281302.2:c.2420_*21dup (GFM2)	NP_001268231.1:n.2420_*21dup
NM_170691.3:c.2183_*21dup (GFM2)	NP_733792.1:n.2183_*21dup
NR_104006.2:n.2389_2426dup (GFM2)