Canonical Allele Identifier: CA444851711

Gene: GFM2

Linked Data

• gnomAD v4: 5-74725640-C-T
• MyVariant Identifiers: chr5:g.74021465C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725640C>T , CM000667.2:g.74725640C>T	GRCh38
NC_000005.9:g.74021465C>T , CM000667.1:g.74021465C>T	GRCh37
NC_000005.8:g.74057221C>T	NCBI36
NG_011531.1:g.46578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2028G>A MANE Select	ENSP00000296805.3:p.Lys676=
ENST00000296805.7:c.2028G>A	ENSP00000296805.3:p.Lys676=
ENST00000345239.6:c.1887G>A	ENSP00000296804.3:p.Lys629=
ENST00000509430.5:c.2028G>A	ENSP00000427004.1:p.Lys676=
ENST00000515125.5:n.431+301G>A
NM_001281302.1:c.2124G>A	NP_001268231.1:p.Lys708=
NM_032380.4:c.2028G>A	NP_115756.2:p.Lys676=
NM_170691.2:c.1887G>A	NP_733792.1:p.Lys629=
NR_104006.1:n.2347G>A
XM_006714721.2:c.1893G>A	XP_006714784.1:p.Lys631=
XM_011543690.1:c.2028G>A	XP_011541992.1:p.Lys676=
XM_017009986.1:c.2028G>A	XP_016865475.1:p.Lys676=
XR_002956185.1:n.3314G>A
NM_032380.5:c.2028G>A MANE Select	NP_115756.2:p.Lys676=
NM_001281302.2:c.2124G>A	NP_001268231.1:p.Lys708=
NM_170691.3:c.1887G>A	NP_733792.1:p.Lys629=
NR_104006.2:n.2093G>A