Canonical Allele Identifier: CA14750994
Gene: MACROD2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.15196934A>G
GRCh37 chr20:g.15177580A>G
gnomAD v2:
20:15177580 A / G
gnomAD v3:
20:15196934 A / G
gnomAD v4:
chr20-15196934-A-G
Joint Max Group AF 0.5977453 (AFR)
Genomes Max Group AF 0.59017277 (AFR)
Exomes Max Group AF 0.61033989 (AFR)
dbSNP:
199307
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.15196934A>G , CM000682.2:g.15196934A>G GRCh38
NC_000020.10:g.15177580A>G , CM000682.1:g.15177580A>G GRCh37
NC_000020.9:g.15125580A>G NCBI36
NG_054905.1:g.1206435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684519.1:c.419-33006A>G MANE Select ENSP00000507484.1:n.419-33006A>G
ENST00000642719.1:c.419-33006A>G ENSP00000496601.1:n.419-33006A>G
ENST00000217246.8:c.419-33006A>G ENSP00000217246.4:n.419-33006A>G
ENST00000402914.5:c.-386A>G ENSP00000385290.1:n.-386A>G
NM_001033087.1:c.-386A>G NP_001028259.1:n.-386A>G
NM_080676.5:c.419-33006A>G NP_542407.2:n.419-33006A>G
NM_001351661.1:c.419-33006A>G NP_001338590.1:n.419-33006A>G
NM_001351663.1:c.419-33006A>G NP_001338592.1:n.419-33006A>G
NM_001351664.1:c.-386A>G NP_001338593.1:n.-386A>G
NM_001033087.2:c.-386A>G NP_001028259.1:n.-386A>G
NM_001351661.2:c.419-33006A>G MANE Select NP_001338590.1:n.419-33006A>G
NM_001351663.2:c.419-33006A>G NP_001338592.1:n.419-33006A>G
NM_001351664.2:c.-386A>G NP_001338593.1:n.-386A>G
NM_080676.6:c.419-33006A>G NP_542407.2:n.419-33006A>G
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