Canonical Allele Identifier: CA2352036879
Community Standard Title: NM_001351661.2(MACROD2):c.540+16929G=
Gene: MACROD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.15246990G= , CM000682.2:g.15246990G= GRCh38
NC_000020.10:g.15227636G= , CM000682.1:g.15227636G= GRCh37
NC_000020.9:g.15175636G= NCBI36
NG_054905.1:g.1256491G=

Transcript Alleles

HGVS Amino-acid Change
NM_001351661.2:c.540+16929G= MANE Select NP_001338590.1:n.540+16929G=
ENST00000684519.1:c.540+16929G= MANE Select ENSP00000507484.1:n.540+16929G=
NM_001033087.1:c.-166+16929G= NP_001028259.1:n.-166+16929G=
NM_001033087.2:c.-166+16929G= NP_001028259.1:n.-166+16929G=
NM_001351661.1:c.540+16929G= NP_001338590.1:n.540+16929G=
NM_001351663.1:c.540+16929G= NP_001338592.1:n.540+16929G=
NM_001351663.2:c.540+16929G= NP_001338592.1:n.540+16929G=
NM_001351664.1:c.-166+16929G= NP_001338593.1:n.-166+16929G=
NM_001351664.2:c.-166+16929G= NP_001338593.1:n.-166+16929G=
NM_080676.5:c.540+16929G= NP_542407.2:n.540+16929G=
NM_080676.6:c.540+16929G= NP_542407.2:n.540+16929G=
ENST00000217246.8:c.540+16929G= ENSP00000217246.4:n.540+16929G=
ENST00000402914.5:c.-166+16929G= ENSP00000385290.1:n.-166+16929G=
ENST00000642719.1:c.540+16929G= ENSP00000496601.1:n.540+16929G=