Canonical Allele Identifier: CA360075978

Gene: GFM2

Linked Data

• MyVariant Identifiers: chr5:g.74021472A>T (hg19) ; chr5:g.74725647A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725647A>T , CM000667.2:g.74725647A>T	GRCh38
NC_000005.9:g.74021472A>T , CM000667.1:g.74021472A>T	GRCh37
NC_000005.8:g.74057228A>T	NCBI36
NG_011531.1:g.46571T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2021T>A MANE Select	ENSP00000296805.3:p.Val674Glu
ENST00000296805.7:c.2021T>A	ENSP00000296805.3:p.Val674Glu
ENST00000345239.6:c.1880T>A	ENSP00000296804.3:p.Val627Glu
ENST00000509430.5:c.2021T>A	ENSP00000427004.1:p.Val674Glu
ENST00000515125.5:n.431+294T>A
NM_001281302.1:c.2117T>A	NP_001268231.1:p.Val706Glu
NM_032380.4:c.2021T>A	NP_115756.2:p.Val674Glu
NM_170691.2:c.1880T>A	NP_733792.1:p.Val627Glu
NR_104006.1:n.2340T>A
XM_006714721.2:c.1886T>A	XP_006714784.1:p.Val629Glu
XM_011543690.1:c.2021T>A	XP_011541992.1:p.Val674Glu
XM_017009986.1:c.2021T>A	XP_016865475.1:p.Val674Glu
XR_002956185.1:n.3307T>A
NM_032380.5:c.2021T>A MANE Select	NP_115756.2:p.Val674Glu
NM_001281302.2:c.2117T>A	NP_001268231.1:p.Val706Glu
NM_170691.3:c.1880T>A	NP_733792.1:p.Val627Glu
NR_104006.2:n.2086T>A