Canonical Allele Identifier: CA360075959

Gene: GFM2

Linked Data

• dbSNP Id: rs1750110059
• MyVariant Identifiers: chr5:g.74021469T>C (hg19) ; chr5:g.74725644T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74725644T>C , CM000667.2:g.74725644T>C	GRCh38
NC_000005.9:g.74021469T>C , CM000667.1:g.74021469T>C	GRCh37
NC_000005.8:g.74057225T>C	NCBI36
NG_011531.1:g.46574A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296805.8:c.2024A>G MANE Select	ENSP00000296805.3:p.Gln675Arg
ENST00000296805.7:c.2024A>G	ENSP00000296805.3:p.Gln675Arg
ENST00000345239.6:c.1883A>G	ENSP00000296804.3:p.Gln628Arg
ENST00000509430.5:c.2024A>G	ENSP00000427004.1:p.Gln675Arg
ENST00000515125.5:n.431+297A>G
NM_001281302.1:c.2120A>G	NP_001268231.1:p.Gln707Arg
NM_032380.4:c.2024A>G	NP_115756.2:p.Gln675Arg
NM_170691.2:c.1883A>G	NP_733792.1:p.Gln628Arg
NR_104006.1:n.2343A>G
XM_006714721.2:c.1889A>G	XP_006714784.1:p.Gln630Arg
XM_011543690.1:c.2024A>G	XP_011541992.1:p.Gln675Arg
XM_017009986.1:c.2024A>G	XP_016865475.1:p.Gln675Arg
XR_002956185.1:n.3310A>G
NM_032380.5:c.2024A>G MANE Select	NP_115756.2:p.Gln675Arg
NM_001281302.2:c.2120A>G	NP_001268231.1:p.Gln707Arg
NM_170691.3:c.1883A>G	NP_733792.1:p.Gln628Arg
NR_104006.2:n.2089A>G