Canonical Allele Identifier: CA444851849

Gene: GFM2

Linked Data

• MyVariant Identifiers: chr5:g.74021530G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725705G>A , CM000667.2:g.74725705G>A	GRCh38
NC_000005.9:g.74021530G>A , CM000667.1:g.74021530G>A	GRCh37
NC_000005.8:g.74057286G>A	NCBI36
NG_011531.1:g.46513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.1963C>T MANE Select	ENSP00000296805.3:p.Leu655=
ENST00000296805.7:c.1963C>T	ENSP00000296805.3:p.Leu655=
ENST00000345239.6:c.1822C>T	ENSP00000296804.3:p.Leu608=
ENST00000509430.5:c.1963C>T	ENSP00000427004.1:p.Leu655=
ENST00000514734.5:n.874C>T
ENST00000515125.5:n.431+236C>T
NM_001281302.1:c.2059C>T	NP_001268231.1:p.Leu687=
NM_032380.4:c.1963C>T	NP_115756.2:p.Leu655=
NM_170691.2:c.1822C>T	NP_733792.1:p.Leu608=
NR_104006.1:n.2282C>T
XM_006714721.2:c.1828C>T	XP_006714784.1:p.Leu610=
XM_011543690.1:c.1963C>T	XP_011541992.1:p.Leu655=
XM_017009986.1:c.1963C>T	XP_016865475.1:p.Leu655=
XR_002956185.1:n.3249C>T
NM_032380.5:c.1963C>T MANE Select	NP_115756.2:p.Leu655=
NM_001281302.2:c.2059C>T	NP_001268231.1:p.Leu687=
NM_170691.3:c.1822C>T	NP_733792.1:p.Leu608=
NR_104006.2:n.2028C>T