Canonical Allele Identifier: CA360072990

Gene: GFM2 HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74017578A>C (hg19) ; chr5:g.74721753A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721753A>C , CM000667.2:g.74721753A>C	GRCh38
NC_000005.9:g.74017578A>C , CM000667.1:g.74017578A>C	GRCh37
NC_000005.8:g.74053334A>C	NCBI36
NG_009770.1:g.41610A>C
NG_011531.1:g.50465T>G
NG_009770.2:g.86731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2242T>G (GFM2) MANE Select	ENSP00000296805.3:p.Ser748Ala
ENST00000296805.7:c.2242T>G (GFM2)	ENSP00000296805.3:p.Ser748Ala
ENST00000345239.6:c.2101T>G (GFM2)	ENSP00000296804.3:p.Ser701Ala
ENST00000503312.5:c.608+317A>C (HEXB)
ENST00000505859.1:c.255+317A>C (HEXB)
ENST00000509430.5:c.2242T>G (GFM2)	ENSP00000427004.1:p.Ser748Ala
ENST00000513867.1:n.380+317A>C (HEXB)
ENST00000515125.5:n.645T>G (GFM2)
NM_001281302.1:c.2338T>G (GFM2)	NP_001268231.1:p.Ser780Ala
NM_032380.4:c.2242T>G (GFM2)	NP_115756.2:p.Ser748Ala
NM_170691.2:c.2101T>G (GFM2)	NP_733792.1:p.Ser701Ala
NR_104006.1:n.2561T>G (GFM2)
XM_006714721.2:c.2107T>G (GFM2)	XP_006714784.1:p.Ser703Ala
XM_011543690.1:c.2242T>G (GFM2)	XP_011541992.1:p.Ser748Ala
XM_017009986.1:c.2242T>G (GFM2)	XP_016865475.1:p.Ser748Ala
XR_002956185.1:n.3528T>G (GFM2)
NM_032380.5:c.2242T>G (GFM2) MANE Select	NP_115756.2:p.Ser748Ala
NM_001281302.2:c.2338T>G (GFM2)	NP_001268231.1:p.Ser780Ala
NM_170691.3:c.2101T>G (GFM2)	NP_733792.1:p.Ser701Ala
NR_104006.2:n.2307T>G (GFM2)