Canonical Allele Identifier: CA360073011

Gene: GFM2 HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74017581T>C (hg19) ; chr5:g.74721756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721756T>C , CM000667.2:g.74721756T>C	GRCh38
NC_000005.9:g.74017581T>C , CM000667.1:g.74017581T>C	GRCh37
NC_000005.8:g.74053337T>C	NCBI36
NG_009770.1:g.41613T>C
NG_011531.1:g.50462A>G
NG_009770.2:g.86734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2239A>G (GFM2) MANE Select	ENSP00000296805.3:p.Thr747Ala
ENST00000296805.7:c.2239A>G (GFM2)	ENSP00000296805.3:p.Thr747Ala
ENST00000345239.6:c.2098A>G (GFM2)	ENSP00000296804.3:p.Thr700Ala
ENST00000503312.5:c.608+320T>C (HEXB)
ENST00000505859.1:c.255+320T>C (HEXB)
ENST00000509430.5:c.2239A>G (GFM2)	ENSP00000427004.1:p.Thr747Ala
ENST00000513867.1:n.380+320T>C (HEXB)
ENST00000515125.5:n.642A>G (GFM2)
NM_001281302.1:c.2335A>G (GFM2)	NP_001268231.1:p.Thr779Ala
NM_032380.4:c.2239A>G (GFM2)	NP_115756.2:p.Thr747Ala
NM_170691.2:c.2098A>G (GFM2)	NP_733792.1:p.Thr700Ala
NR_104006.1:n.2558A>G (GFM2)
XM_006714721.2:c.2104A>G (GFM2)	XP_006714784.1:p.Thr702Ala
XM_011543690.1:c.2239A>G (GFM2)	XP_011541992.1:p.Thr747Ala
XM_017009986.1:c.2239A>G (GFM2)	XP_016865475.1:p.Thr747Ala
XR_002956185.1:n.3525A>G (GFM2)
NM_032380.5:c.2239A>G (GFM2) MANE Select	NP_115756.2:p.Thr747Ala
NM_001281302.2:c.2335A>G (GFM2)	NP_001268231.1:p.Thr779Ala
NM_170691.3:c.2098A>G (GFM2)	NP_733792.1:p.Thr700Ala
NR_104006.2:n.2304A>G (GFM2)