Canonical Allele Identifier: CA813921396

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1410669185
• gnomAD v3: 5-74722025-C-CAA
• gnomAD v4: 5-74722025-C-CAA
• MyVariant Identifiers: chr5:g.74017850_74017851insAA (hg19) ; chr5:g.74722025_74722026insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74722026_74722027dup , CM000667.2:g.74722026_74722027dup	GRCh38
NC_000005.9:g.74017851_74017852dup , CM000667.1:g.74017851_74017852dup	GRCh37
NC_000005.8:g.74053607_74053608dup	NCBI36
NG_009770.1:g.41883_41884dup
NG_011531.1:g.50191_50192dup
NG_009770.2:g.87004_87005dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-244_2212-243dup (GFM2) MANE Select	ENSP00000296805.3:n.2212-244_2212-243dup
ENST00000296805.7:c.2212-244_2212-243dup (GFM2)	ENSP00000296805.3:n.2212-244_2212-243dup
ENST00000345239.6:c.2071-244_2071-243dup (GFM2)	ENSP00000296804.3:n.2071-244_2071-243dup
ENST00000503312.5:c.609-443_609-442dup (HEXB)
ENST00000505859.1:c.256-273_256-272dup (HEXB)
ENST00000509430.5:c.2212-244_2212-243dup (GFM2)	ENSP00000427004.1:n.2212-244_2212-243dup
ENST00000513867.1:n.381-273_381-272dup (HEXB)
ENST00000515125.5:n.615-244_615-243dup (GFM2)
NM_001281302.1:c.2308-244_2308-243dup (GFM2)	NP_001268231.1:n.2308-244_2308-243dup
NM_032380.4:c.2212-244_2212-243dup (GFM2)	NP_115756.2:n.2212-244_2212-243dup
NM_170691.2:c.2071-244_2071-243dup (GFM2)	NP_733792.1:n.2071-244_2071-243dup
NR_104006.1:n.2531-244_2531-243dup (GFM2)
XM_006714721.2:c.2077-244_2077-243dup (GFM2)	XP_006714784.1:n.2077-244_2077-243dup
XM_011543690.1:c.2212-244_2212-243dup (GFM2)	XP_011541992.1:n.2212-244_2212-243dup
XM_017009986.1:c.2212-244_2212-243dup (GFM2)	XP_016865475.1:n.2212-244_2212-243dup
XR_002956185.1:n.3498-244_3498-243dup (GFM2)
NM_032380.5:c.2212-244_2212-243dup (GFM2) MANE Select	NP_115756.2:n.2212-244_2212-243dup
NM_001281302.2:c.2308-244_2308-243dup (GFM2)	NP_001268231.1:n.2308-244_2308-243dup
NM_170691.3:c.2071-244_2071-243dup (GFM2)	NP_733792.1:n.2071-244_2071-243dup
NR_104006.2:n.2277-244_2277-243dup (GFM2)