Canonical Allele Identifier: CA120908821

Gene: GFM2 HEXB

Linked Data

• dbSNP Id: rs972190669
• gnomAD v4: 5-74721861-T-A
• MyVariant Identifiers: chr5:g.74017686T>A (hg19) ; chr5:g.74721861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721861T>A , CM000667.2:g.74721861T>A	GRCh38
NC_000005.9:g.74017686T>A , CM000667.1:g.74017686T>A	GRCh37
NC_000005.8:g.74053442T>A	NCBI36
NG_009770.1:g.41718T>A
NG_011531.1:g.50357A>T
NG_009770.2:g.86839T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2212-78A>T (GFM2) MANE Select	ENSP00000296805.3:n.2212-78A>T
ENST00000296805.7:c.2212-78A>T (GFM2)	ENSP00000296805.3:n.2212-78A>T
ENST00000345239.6:c.2071-78A>T (GFM2)	ENSP00000296804.3:n.2071-78A>T
ENST00000503312.5:c.608+425T>A (HEXB)
ENST00000505859.1:c.255+425T>A (HEXB)
ENST00000509430.5:c.2212-78A>T (GFM2)	ENSP00000427004.1:n.2212-78A>T
ENST00000513867.1:n.380+425T>A (HEXB)
ENST00000515125.5:n.615-78A>T (GFM2)
NM_001281302.1:c.2308-78A>T (GFM2)	NP_001268231.1:n.2308-78A>T
NM_032380.4:c.2212-78A>T (GFM2)	NP_115756.2:n.2212-78A>T
NM_170691.2:c.2071-78A>T (GFM2)	NP_733792.1:n.2071-78A>T
NR_104006.1:n.2531-78A>T (GFM2)
XM_006714721.2:c.2077-78A>T (GFM2)	XP_006714784.1:n.2077-78A>T
XM_011543690.1:c.2212-78A>T (GFM2)	XP_011541992.1:n.2212-78A>T
XM_017009986.1:c.2212-78A>T (GFM2)	XP_016865475.1:n.2212-78A>T
XR_002956185.1:n.3498-78A>T (GFM2)
NM_032380.5:c.2212-78A>T (GFM2) MANE Select	NP_115756.2:n.2212-78A>T
NM_001281302.2:c.2308-78A>T (GFM2)	NP_001268231.1:n.2308-78A>T
NM_170691.3:c.2071-78A>T (GFM2)	NP_733792.1:n.2071-78A>T
NR_104006.2:n.2277-78A>T (GFM2)