Canonical Allele Identifier: CA1555784380

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749897574

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721778_74721779insC , CM000667.2:g.74721778_74721779insC	GRCh38
NC_000005.9:g.74017603_74017604insC , CM000667.1:g.74017603_74017604insC	GRCh37
NC_000005.8:g.74053359_74053360insC	NCBI36
NG_009770.1:g.41635_41636insC
NG_011531.1:g.50439_50440insG
NG_009770.2:g.86756_86757insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2216_2217insG (GFM2) MANE Select	ENSP00000296805.3:p.Tyr739Ter
ENST00000296805.7:c.2216_2217insG (GFM2)	ENSP00000296805.3:p.Tyr739Ter
ENST00000345239.6:c.2075_2076insG (GFM2)	ENSP00000296804.3:p.Tyr692Ter
ENST00000503312.5:c.608+342_608+343insC (HEXB)
ENST00000505859.1:c.255+342_255+343insC (HEXB)
ENST00000509430.5:c.2216_2217insG (GFM2)	ENSP00000427004.1:p.Tyr739Ter
ENST00000513867.1:n.380+342_380+343insC (HEXB)
ENST00000515125.5:n.619_620insG (GFM2)
NM_001281302.1:c.2312_2313insG (GFM2)	NP_001268231.1:p.Tyr771Ter
NM_032380.4:c.2216_2217insG (GFM2)	NP_115756.2:p.Tyr739Ter
NM_170691.2:c.2075_2076insG (GFM2)	NP_733792.1:p.Tyr692Ter
NR_104006.1:n.2535_2536insG (GFM2)
XM_006714721.2:c.2081_2082insG (GFM2)	XP_006714784.1:p.Tyr694Ter
XM_011543690.1:c.2216_2217insG (GFM2)	XP_011541992.1:p.Tyr739Ter
XM_017009986.1:c.2216_2217insG (GFM2)	XP_016865475.1:p.Tyr739Ter
XR_002956185.1:n.3502_3503insG (GFM2)
NM_032380.5:c.2216_2217insG (GFM2) MANE Select	NP_115756.2:p.Tyr739Ter
NM_001281302.2:c.2312_2313insG (GFM2)	NP_001268231.1:p.Tyr771Ter
NM_170691.3:c.2075_2076insG (GFM2)	NP_733792.1:p.Tyr692Ter
NR_104006.2:n.2281_2282insG (GFM2)