Canonical Allele Identifier: CA360072946

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1561231094
• gnomAD v2: 5-74017571-G-A
• gnomAD v4: 5-74721746-G-A
• MyVariant Identifiers: chr5:g.74017571G>A (hg19) ; chr5:g.74017571_74017572delinsAA (hg19) ; chr5:g.74721746G>A (hg38) ; chr5:g.74721746_74721747delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721746G>A , CM000667.2:g.74721746G>A	GRCh38
NC_000005.9:g.74017571G>A , CM000667.1:g.74017571G>A	GRCh37
NC_000005.8:g.74053327G>A	NCBI36
NG_009770.1:g.41603G>A
NG_011531.1:g.50472C>T
NG_009770.2:g.86724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2249C>T (GFM2) MANE Select	ENSP00000296805.3:p.Ser750Leu
ENST00000296805.7:c.2249C>T (GFM2)	ENSP00000296805.3:p.Ser750Leu
ENST00000345239.6:c.2108C>T (GFM2)	ENSP00000296804.3:p.Ser703Leu
ENST00000503312.5:c.608+310G>A (HEXB)
ENST00000505859.1:c.255+310G>A (HEXB)
ENST00000509430.5:c.2249C>T (GFM2)	ENSP00000427004.1:p.Ser750Leu
ENST00000513867.1:n.380+310G>A (HEXB)
ENST00000515125.5:n.652C>T (GFM2)
NM_001281302.1:c.2345C>T (GFM2)	NP_001268231.1:p.Ser782Leu
NM_032380.4:c.2249C>T (GFM2)	NP_115756.2:p.Ser750Leu
NM_170691.2:c.2108C>T (GFM2)	NP_733792.1:p.Ser703Leu
NR_104006.1:n.2568C>T (GFM2)
XM_006714721.2:c.2114C>T (GFM2)	XP_006714784.1:p.Ser705Leu
XM_011543690.1:c.2249C>T (GFM2)	XP_011541992.1:p.Ser750Leu
XM_017009986.1:c.2249C>T (GFM2)	XP_016865475.1:p.Ser750Leu
XR_002956185.1:n.3535C>T (GFM2)
NM_032380.5:c.2249C>T (GFM2) MANE Select	NP_115756.2:p.Ser750Leu
NM_001281302.2:c.2345C>T (GFM2)	NP_001268231.1:p.Ser782Leu
NM_170691.3:c.2108C>T (GFM2)	NP_733792.1:p.Ser703Leu
NR_104006.2:n.2314C>T (GFM2)