Canonical Allele Identifier: CA14784487
Gene: MACROD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.15355108T>C , CM000682.2:g.15355108T>C GRCh38
NC_000020.10:g.15335754T>C , CM000682.1:g.15335754T>C GRCh37
NC_000020.9:g.15283754T>C NCBI36
NG_054905.1:g.1364609T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684519.1:c.541-76297T>C MANE Select ENSP00000507484.1:n.541-76297T>C
ENST00000642719.1:c.541-76297T>C ENSP00000496601.1:n.541-76297T>C
ENST00000217246.8:c.541-76297T>C ENSP00000217246.4:n.541-76297T>C
ENST00000402914.5:c.-165-76297T>C ENSP00000385290.1:n.-165-76297T>C
NM_001033087.1:c.-165-76297T>C NP_001028259.1:n.-165-76297T>C
NM_080676.5:c.541-76297T>C NP_542407.2:n.541-76297T>C
NM_001351661.1:c.541-76297T>C NP_001338590.1:n.541-76297T>C
NM_001351663.1:c.541-76297T>C NP_001338592.1:n.541-76297T>C
NM_001351664.1:c.-165-76297T>C NP_001338593.1:n.-165-76297T>C
NM_001033087.2:c.-165-76297T>C NP_001028259.1:n.-165-76297T>C
NM_001351661.2:c.541-76297T>C MANE Select NP_001338590.1:n.541-76297T>C
NM_001351663.2:c.541-76297T>C NP_001338592.1:n.541-76297T>C
NM_001351664.2:c.-165-76297T>C NP_001338593.1:n.-165-76297T>C
NM_080676.6:c.541-76297T>C NP_542407.2:n.541-76297T>C
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