Canonical Allele Identifier: CA2351986199
Gene: MACROD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.15140098A>C , CM000682.2:g.15140098A>C GRCh38
NC_000020.10:g.15120744A>C , CM000682.1:g.15120744A>C GRCh37
NC_000020.9:g.15068744A>C NCBI36
NG_054905.1:g.1149599A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684519.1:c.419-89842A>C MANE Select ENSP00000507484.1:n.419-89842A>C
ENST00000642719.1:c.419-89842A>C ENSP00000496601.1:n.419-89842A>C
ENST00000217246.8:c.419-89842A>C ENSP00000217246.4:n.419-89842A>C
NM_080676.5:c.419-89842A>C NP_542407.2:n.419-89842A>C
NM_001351661.1:c.419-89842A>C NP_001338590.1:n.419-89842A>C
NM_001351663.1:c.419-89842A>C NP_001338592.1:n.419-89842A>C
NM_001351661.2:c.419-89842A>C MANE Select NP_001338590.1:n.419-89842A>C
NM_001351663.2:c.419-89842A>C NP_001338592.1:n.419-89842A>C
NM_080676.6:c.419-89842A>C NP_542407.2:n.419-89842A>C