Canonical Allele Identifier: CA120922049
Community Standard Title: NM_032380.5(GFM2):c.849+185C>T
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74745493G>A , CM000667.2:g.74745493G>A GRCh38
NC_000005.9:g.74041318G>A , CM000667.1:g.74041318G>A GRCh37
NC_000005.8:g.74077074G>A NCBI36
NG_011531.1:g.26725C>T

Transcript Alleles

HGVS Amino-acid Change
NM_032380.5:c.849+185C>T MANE Select NP_115756.2:n.849+185C>T
ENST00000296805.8:c.849+185C>T MANE Select ENSP00000296805.3:n.849+185C>T
NM_001281302.1:c.945+185C>T NP_001268231.1:n.945+185C>T
NM_001281302.2:c.945+185C>T NP_001268231.1:n.945+185C>T
NM_032380.4:c.849+185C>T NP_115756.2:n.849+185C>T
NM_170681.2:c.849+185C>T NP_733781.1:n.849+185C>T
NM_170681.3:c.849+185C>T NP_733781.1:n.849+185C>T
NM_170691.2:c.849+185C>T NP_733792.1:n.849+185C>T
NM_170691.3:c.849+185C>T NP_733792.1:n.849+185C>T
NR_104006.1:n.1307+185C>T
NR_104006.2:n.1053+185C>T
ENST00000296805.7:c.849+185C>T ENSP00000296805.3:n.849+185C>T
ENST00000345239.6:c.849+185C>T ENSP00000296804.3:n.849+185C>T
ENST00000427854.6:c.849+185C>T ENSP00000405808.2:n.849+185C>T
ENST00000509097.1:c.723+185C>T ENSP00000421717.1:n.723+185C>T
ENST00000509430.5:c.849+185C>T ENSP00000427004.1:n.849+185C>T
XM_006714721.2:c.849+185C>T XP_006714784.1:n.849+185C>T
XM_011543690.1:c.849+185C>T XP_011541992.1:n.849+185C>T
XM_011543691.1:c.849+185C>T XP_011541993.1:n.849+185C>T
XM_011543691.3:c.849+185C>T XP_011541993.1:n.849+185C>T
XM_017009986.1:c.849+185C>T XP_016865475.1:n.849+185C>T
XR_002956185.1:n.1083+185C>T