Canonical Allele Identifier: CA3306576

Gene: GFM2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74738391G>A , CM000667.2:g.74738391G>A	GRCh38
NC_000005.9:g.74034216G>A , CM000667.1:g.74034216G>A	GRCh37
NC_000005.8:g.74069972G>A	NCBI36
NG_011531.1:g.33827C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_032380.5:c.1247C>T MANE Select	NP_115756.2:p.Pro416Leu
ENST00000296805.8:c.1247C>T MANE Select	ENSP00000296805.3:p.Pro416Leu
NM_001281302.1:c.1343C>T	NP_001268231.1:p.Pro448Leu
NM_001281302.2:c.1343C>T	NP_001268231.1:p.Pro448Leu
NM_032380.4:c.1247C>T	NP_115756.2:p.Pro416Leu
NM_170681.2:c.1247C>T	NP_733781.1:p.Pro416Leu
NM_170681.3:c.1247C>T	NP_733781.1:p.Pro416Leu
NM_170691.2:c.1106C>T	NP_733792.1:p.Pro369Leu
NM_170691.3:c.1106C>T	NP_733792.1:p.Pro369Leu
NR_104006.1:n.1705C>T
NR_104006.2:n.1451C>T
ENST00000296805.7:c.1247C>T	ENSP00000296805.3:p.Pro416Leu
ENST00000345239.6:c.1106C>T	ENSP00000296804.3:p.Pro369Leu
ENST00000427854.6:c.1247C>T	ENSP00000405808.2:p.Pro416Leu
ENST00000509430.5:c.1247C>T	ENSP00000427004.1:p.Pro416Leu
XM_006714721.2:c.1247C>T	XP_006714784.1:p.Pro416Leu
XM_011543690.1:c.1247C>T	XP_011541992.1:p.Pro416Leu
XM_011543691.1:c.1247C>T	XP_011541993.1:p.Pro416Leu
XM_011543691.3:c.1247C>T	XP_011541993.1:p.Pro416Leu
XM_017009986.1:c.1247C>T	XP_016865475.1:p.Pro416Leu
XR_002956185.1:n.1340C>T