Canonical Allele Identifier: CA3306660
Community Standard Title: NM_032380.5(GFM2):c.930+4A>G
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74741525T>C , CM000667.2:g.74741525T>C GRCh38
NC_000005.9:g.74037350T>C , CM000667.1:g.74037350T>C GRCh37
NC_000005.8:g.74073106T>C NCBI36
NG_011531.1:g.30693A>G

Transcript Alleles

HGVS Amino-acid Change
NM_032380.5:c.930+4A>G MANE Select NP_115756.2:n.930+4A>G
ENST00000296805.8:c.930+4A>G MANE Select ENSP00000296805.3:n.930+4A>G
NM_001281302.1:c.1026+4A>G NP_001268231.1:n.1026+4A>G
NM_001281302.2:c.1026+4A>G NP_001268231.1:n.1026+4A>G
NM_032380.4:c.930+4A>G NP_115756.2:n.930+4A>G
NM_170681.2:c.930+4A>G NP_733781.1:n.930+4A>G
NM_170681.3:c.930+4A>G NP_733781.1:n.930+4A>G
NM_170691.2:c.930+4A>G NP_733792.1:n.930+4A>G
NM_170691.3:c.930+4A>G NP_733792.1:n.930+4A>G
NR_104006.1:n.1388+4A>G
NR_104006.2:n.1134+4A>G
ENST00000296805.7:c.930+4A>G ENSP00000296805.3:n.930+4A>G
ENST00000345239.6:c.930+4A>G ENSP00000296804.3:n.930+4A>G
ENST00000427854.6:c.930+4A>G ENSP00000405808.2:n.930+4A>G
ENST00000509097.1:c.804+4A>G ENSP00000421717.1:n.804+4A>G
ENST00000509430.5:c.930+4A>G ENSP00000427004.1:n.930+4A>G
ENST00000513331.1:n.320+4A>G
XM_006714721.2:c.930+4A>G XP_006714784.1:n.930+4A>G
XM_011543690.1:c.930+4A>G XP_011541992.1:n.930+4A>G
XM_011543691.1:c.930+4A>G XP_011541993.1:n.930+4A>G
XM_011543691.3:c.930+4A>G XP_011541993.1:n.930+4A>G
XM_017009986.1:c.930+4A>G XP_016865475.1:n.930+4A>G
XR_002956185.1:n.1164+4A>G