Canonical Allele Identifier: CA360073104

Gene: GFM2 HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74017602A>C (hg19) ; chr5:g.74721777A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721777A>C , CM000667.2:g.74721777A>C	GRCh38
NC_000005.9:g.74017602A>C , CM000667.1:g.74017602A>C	GRCh37
NC_000005.8:g.74053358A>C	NCBI36
NG_009770.1:g.41634A>C
NG_011531.1:g.50441T>G
NG_009770.2:g.86755A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2218T>G (GFM2) MANE Select	ENSP00000296805.3:p.Ser740Ala
ENST00000296805.7:c.2218T>G (GFM2)	ENSP00000296805.3:p.Ser740Ala
ENST00000345239.6:c.2077T>G (GFM2)	ENSP00000296804.3:p.Ser693Ala
ENST00000503312.5:c.608+341A>C (HEXB)
ENST00000505859.1:c.255+341A>C (HEXB)
ENST00000509430.5:c.2218T>G (GFM2)	ENSP00000427004.1:p.Ser740Ala
ENST00000513867.1:n.380+341A>C (HEXB)
ENST00000515125.5:n.621T>G (GFM2)
NM_001281302.1:c.2314T>G (GFM2)	NP_001268231.1:p.Ser772Ala
NM_032380.4:c.2218T>G (GFM2)	NP_115756.2:p.Ser740Ala
NM_170691.2:c.2077T>G (GFM2)	NP_733792.1:p.Ser693Ala
NR_104006.1:n.2537T>G (GFM2)
XM_006714721.2:c.2083T>G (GFM2)	XP_006714784.1:p.Ser695Ala
XM_011543690.1:c.2218T>G (GFM2)	XP_011541992.1:p.Ser740Ala
XM_017009986.1:c.2218T>G (GFM2)	XP_016865475.1:p.Ser740Ala
XR_002956185.1:n.3504T>G (GFM2)
NM_032380.5:c.2218T>G (GFM2) MANE Select	NP_115756.2:p.Ser740Ala
NM_001281302.2:c.2314T>G (GFM2)	NP_001268231.1:p.Ser772Ala
NM_170691.3:c.2077T>G (GFM2)	NP_733792.1:p.Ser693Ala
NR_104006.2:n.2283T>G (GFM2)