Canonical Allele Identifier: CA1555784490

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1749912543

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74722006_74722009dup , CM000667.2:g.74722006_74722009dup	GRCh38
NC_000005.9:g.74017831_74017834dup , CM000667.1:g.74017831_74017834dup	GRCh37
NC_000005.8:g.74053587_74053590dup	NCBI36
NG_009770.1:g.41863_41866dup
NG_011531.1:g.50211_50214dup
NG_009770.2:g.86984_86987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-224_2212-221dup (GFM2) MANE Select	ENSP00000296805.3:n.2212-224_2212-221dup
ENST00000296805.7:c.2212-224_2212-221dup (GFM2)	ENSP00000296805.3:n.2212-224_2212-221dup
ENST00000345239.6:c.2071-224_2071-221dup (GFM2)	ENSP00000296804.3:n.2071-224_2071-221dup
ENST00000503312.5:c.609-463_609-460dup (HEXB)
ENST00000505859.1:c.256-293_256-290dup (HEXB)
ENST00000509430.5:c.2212-224_2212-221dup (GFM2)	ENSP00000427004.1:n.2212-224_2212-221dup
ENST00000513867.1:n.381-293_381-290dup (HEXB)
ENST00000515125.5:n.615-224_615-221dup (GFM2)
NM_001281302.1:c.2308-224_2308-221dup (GFM2)	NP_001268231.1:n.2308-224_2308-221dup
NM_032380.4:c.2212-224_2212-221dup (GFM2)	NP_115756.2:n.2212-224_2212-221dup
NM_170691.2:c.2071-224_2071-221dup (GFM2)	NP_733792.1:n.2071-224_2071-221dup
NR_104006.1:n.2531-224_2531-221dup (GFM2)
XM_006714721.2:c.2077-224_2077-221dup (GFM2)	XP_006714784.1:n.2077-224_2077-221dup
XM_011543690.1:c.2212-224_2212-221dup (GFM2)	XP_011541992.1:n.2212-224_2212-221dup
XM_017009986.1:c.2212-224_2212-221dup (GFM2)	XP_016865475.1:n.2212-224_2212-221dup
XR_002956185.1:n.3498-224_3498-221dup (GFM2)
NM_032380.5:c.2212-224_2212-221dup (GFM2) MANE Select	NP_115756.2:n.2212-224_2212-221dup
NM_001281302.2:c.2308-224_2308-221dup (GFM2)	NP_001268231.1:n.2308-224_2308-221dup
NM_170691.3:c.2071-224_2071-221dup (GFM2)	NP_733792.1:n.2071-224_2071-221dup
NR_104006.2:n.2277-224_2277-221dup (GFM2)