Canonical Allele Identifier: CA120915567
Community Standard Title: NM_032380.5(GFM2):c.1511-133G>A
Gene: GFM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74733231C>T , CM000667.2:g.74733231C>T GRCh38
NC_000005.9:g.74029056C>T , CM000667.1:g.74029056C>T GRCh37
NC_000005.8:g.74064812C>T NCBI36
NG_011531.1:g.38987G>A

Transcript Alleles

HGVS Amino-acid Change
NM_032380.5:c.1511-133G>A MANE Select NP_115756.2:n.1511-133G>A
ENST00000296805.8:c.1511-133G>A MANE Select ENSP00000296805.3:n.1511-133G>A
NM_001281302.1:c.1607-133G>A NP_001268231.1:n.1607-133G>A
NM_001281302.2:c.1607-133G>A NP_001268231.1:n.1607-133G>A
NM_032380.4:c.1511-133G>A NP_115756.2:n.1511-133G>A
NM_170691.2:c.1370-133G>A NP_733792.1:n.1370-133G>A
NM_170691.3:c.1370-133G>A NP_733792.1:n.1370-133G>A
NR_104006.1:n.1969-133G>A
NR_104006.2:n.1715-133G>A
ENST00000296805.7:c.1511-133G>A ENSP00000296805.3:n.1511-133G>A
ENST00000345239.6:c.1370-133G>A ENSP00000296804.3:n.1370-133G>A
ENST00000506263.1:n.158G>A
ENST00000509430.5:c.1511-133G>A ENSP00000427004.1:n.1511-133G>A
ENST00000514734.5:n.248-133G>A
ENST00000515125.5:n.169-133G>A
XM_006714721.2:c.1511-133G>A XP_006714784.1:n.1511-133G>A
XM_011543690.1:c.1511-133G>A XP_011541992.1:n.1511-133G>A
XM_011543691.1:c.1511-133G>A XP_011541993.1:n.1511-133G>A
XM_011543691.3:c.1511-133G>A XP_011541993.1:n.1511-133G>A
XM_017009986.1:c.1511-133G>A XP_016865475.1:n.1511-133G>A
XR_002956185.1:n.2936-133G>A