Canonical Allele Identifier: CA360073138

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs1271539149
• gnomAD v3: 5-74721783-C-T
• gnomAD v4: 5-74721783-C-T
• MyVariant Identifiers: chr5:g.74017608C>T (hg19) ; chr5:g.74721783C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721783C>T , CM000667.2:g.74721783C>T	GRCh38
NC_000005.9:g.74017608C>T , CM000667.1:g.74017608C>T	GRCh37
NC_000005.8:g.74053364C>T	NCBI36
NG_009770.1:g.41640C>T
NG_011531.1:g.50435G>A
NG_009770.2:g.86761C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212G>A (GFM2) MANE Select	ENSP00000296805.3:p.Gly738Ser
ENST00000296805.7:c.2212G>A (GFM2)	ENSP00000296805.3:p.Gly738Ser
ENST00000345239.6:c.2071G>A (GFM2)	ENSP00000296804.3:p.Gly691Ser
ENST00000503312.5:c.608+347C>T (HEXB)
ENST00000505859.1:c.255+347C>T (HEXB)
ENST00000509430.5:c.2212G>A (GFM2)	ENSP00000427004.1:p.Gly738Ser
ENST00000513867.1:n.380+347C>T (HEXB)
ENST00000515125.5:n.615G>A (GFM2)
NM_001281302.1:c.2308G>A (GFM2)	NP_001268231.1:p.Gly770Ser
NM_032380.4:c.2212G>A (GFM2)	NP_115756.2:p.Gly738Ser
NM_170691.2:c.2071G>A (GFM2)	NP_733792.1:p.Gly691Ser
NR_104006.1:n.2531G>A (GFM2)
XM_006714721.2:c.2077G>A (GFM2)	XP_006714784.1:p.Gly693Ser
XM_011543690.1:c.2212G>A (GFM2)	XP_011541992.1:p.Gly738Ser
XM_017009986.1:c.2212G>A (GFM2)	XP_016865475.1:p.Gly738Ser
XR_002956185.1:n.3498G>A (GFM2)
NM_032380.5:c.2212G>A (GFM2) MANE Select	NP_115756.2:p.Gly738Ser
NM_001281302.2:c.2308G>A (GFM2)	NP_001268231.1:p.Gly770Ser
NM_170691.3:c.2071G>A (GFM2)	NP_733792.1:p.Gly691Ser
NR_104006.2:n.2277G>A (GFM2)