Canonical Allele Identifier: CA14845499
Gene: MACROD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.14347253G>A , CM000682.2:g.14347253G>A GRCh38
NC_000020.10:g.14327899G>A , CM000682.1:g.14327899G>A GRCh37
NC_000020.9:g.14275899G>A NCBI36
NG_054905.1:g.356754G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684519.1:c.272-146226G>A MANE Select ENSP00000507484.1:n.272-146226G>A
ENST00000642719.1:c.272-146226G>A ENSP00000496601.1:n.272-146226G>A
ENST00000217246.8:c.272-146226G>A ENSP00000217246.4:n.272-146226G>A
ENST00000477147.5:n.541-146226G>A
ENST00000490428.5:n.263-146226G>A
ENST00000494602.5:n.299-146226G>A
NM_080676.5:c.272-146226G>A NP_542407.2:n.272-146226G>A
NM_001351661.1:c.272-146226G>A NP_001338590.1:n.272-146226G>A
NM_001351663.1:c.272-146226G>A NP_001338592.1:n.272-146226G>A
NM_001351661.2:c.272-146226G>A MANE Select NP_001338590.1:n.272-146226G>A
NM_001351663.2:c.272-146226G>A NP_001338592.1:n.272-146226G>A
NM_080676.6:c.272-146226G>A NP_542407.2:n.272-146226G>A
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