Canonical Allele Identifier: CA7163978
Gene: MIA2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.39267476T>C
GRCh37 chr14:g.39736680T>C
Revel Score:
ENST00000341502 0.031
ENST00000396158 0.031
ENST00000280083 0.031
ENST00000348007 0.031
gnomAD v2:
14:39736680 T / C
gnomAD v3:
14:39267476 T / C
gnomAD v4:
chr14-39267476-T-C
Joint Max Group AF 0.96069507 (EAS)
Genomes Max Group AF 0.94837109 (AFR)
Exomes Max Group AF 0.96172244 (EAS)
dbSNP:
7140561
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.39267476T>C , CM000676.2:g.39267476T>C GRCh38
NC_000014.8:g.39736680T>C , CM000676.1:g.39736680T>C GRCh37
NC_000014.7:g.38806431T>C NCBI36
NG_030349.1:g.7205T>C
NG_030349.3:g.38556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000640607.2:c.1888-9458T>C MANE Select ENSP00000491014.1:n.1888-9458T>C
ENST00000640607.1:c.1888-9458T>C ENSP00000491014.1:n.1888-9458T>C
ENST00000280083.7:c.17T>C ENSP00000280083.3:p.Val6Ala
ENST00000341502.9:c.17T>C ENSP00000339286.5:p.Val6Ala
ENST00000341749.7:c.27+2055T>C ENSP00000343897.3:n.27+2055T>C
ENST00000348007.7:c.17T>C ENSP00000343912.3:p.Val6Ala
ENST00000396158.6:c.17T>C ENSP00000379462.2:p.Val6Ala
ENST00000396165.8:c.-25+949T>C ENSP00000379468.4:n.-25+949T>C
ENST00000553728.1:c.1669-9458T>C ENSP00000452252.1:n.1669-9458T>C
ENST00000554392.5:c.27+2055T>C ENSP00000451164.1:n.27+2055T>C
ENST00000555716.5:c.27+2055T>C ENSP00000452395.1:n.27+2055T>C
ENST00000556148.5:c.-114T>C ENSP00000452562.1:n.-114T>C
ENST00000556990.1:n.104+287T>C
ENST00000557038.5:c.-156+2055T>C ENSP00000450869.1:n.-156+2055T>C
NM_001247988.1:c.-25+949T>C NP_001234917.1:n.-25+949T>C
NM_001247989.1:c.17T>C NP_001234918.1:p.Val6Ala
NM_001247990.1:c.-114T>C NP_001234919.1:n.-114T>C
NM_005930.3:c.17T>C NP_005921.2:p.Val6Ala
NM_203354.2:c.27+2055T>C NP_976229.1:n.27+2055T>C
NM_203355.2:c.17T>C NP_976230.1:p.Val6Ala
NM_203356.2:c.-25+949T>C NP_976231.1:n.-25+949T>C
XM_005267648.3:c.45+744T>C XP_005267705.1:n.45+744T>C
XM_006720148.1:c.-25+287T>C XP_006720211.1:n.-25+287T>C
XM_011536775.1:c.17T>C XP_011535077.1:p.Val6Ala
XM_011536776.1:c.45+744T>C XP_011535078.1:n.45+744T>C
XM_011536778.1:c.27+2055T>C XP_011535080.1:n.27+2055T>C
XM_011536779.1:c.-25+949T>C XP_011535081.1:n.-25+949T>C
XM_011536780.1:c.-25+683T>C XP_011535082.1:n.-25+683T>C
XM_011536781.1:c.-25+437T>C XP_011535083.1:n.-25+437T>C
XM_011536782.1:c.-114T>C XP_011535084.1:n.-114T>C
XM_011536783.1:c.-68+2055T>C XP_011535085.1:n.-68+2055T>C
XM_011536784.1:c.-114T>C XP_011535086.1:n.-114T>C
XM_011536785.1:c.-68+2055T>C XP_011535087.1:n.-68+2055T>C
NM_001329214.2:c.1888-9458T>C NP_001316143.1:n.1888-9458T>C
NM_001354137.1:c.-25+437T>C NP_001341066.1:n.-25+437T>C
NM_001354138.1:c.-25+287T>C NP_001341067.1:n.-25+287T>C
NM_001354139.1:c.-25+437T>C NP_001341068.1:n.-25+437T>C
NM_001354140.1:c.-156+2055T>C NP_001341069.1:n.-156+2055T>C
NM_001354141.1:c.-114T>C NP_001341070.1:n.-114T>C
NM_001354142.1:c.-68+949T>C NP_001341071.1:n.-68+949T>C
NM_001354143.1:c.-68+287T>C NP_001341072.1:n.-68+287T>C
NM_001354144.1:c.-114T>C NP_001341073.1:n.-114T>C
NM_001354145.1:c.-68+2055T>C NP_001341074.1:n.-68+2055T>C
NM_001354146.1:c.27+2055T>C NP_001341075.1:n.27+2055T>C
NM_001354147.1:c.-25+949T>C NP_001341076.1:n.-25+949T>C
NM_001354148.1:c.-25+949T>C NP_001341077.1:n.-25+949T>C
NM_001354149.1:c.-25+949T>C NP_001341078.1:n.-25+949T>C
NM_001354150.1:c.45+744T>C NP_001341079.1:n.45+744T>C
NM_001354151.1:c.17T>C NP_001341080.1:p.Val6Ala
NM_001354152.1:c.17T>C NP_001341081.1:p.Val6Ala
NM_001354153.1:c.17T>C NP_001341082.1:p.Val6Ala
NM_001354154.1:c.17T>C NP_001341083.1:p.Val6Ala
NM_001354155.1:c.17T>C NP_001341084.1:p.Val6Ala
NM_001354156.1:c.-114T>C NP_001341085.1:n.-114T>C
NM_001354157.1:c.17T>C NP_001341086.1:p.Val6Ala
NR_148721.1:n.230+949T>C
NR_148722.1:n.353T>C
NR_148723.1:n.353T>C
XM_011536778.2:c.27+2055T>C XP_011535080.1:n.27+2055T>C
XM_011536785.2:c.-68+2055T>C XP_011535087.1:n.-68+2055T>C
XM_017021314.1:c.17T>C XP_016876803.1:p.Val6Ala
XM_017021315.2:c.45+744T>C XP_016876804.1:n.45+744T>C
XM_017021316.1:c.27+2055T>C XP_016876805.1:n.27+2055T>C
XM_017021317.2:c.-25+949T>C XP_016876806.1:n.-25+949T>C
XM_017021318.1:c.-25+437T>C XP_016876807.1:n.-25+437T>C
XM_017021319.1:c.-25+287T>C XP_016876808.1:n.-25+287T>C
XM_017021324.2:c.-68+2055T>C XP_016876813.1:n.-68+2055T>C
XM_017021327.1:c.-68+2055T>C XP_016876816.1:n.-68+2055T>C
XM_017021330.1:c.-25+683T>C XP_016876819.1:n.-25+683T>C
XM_024449592.1:c.1888-9458T>C XP_024305360.1:n.1888-9458T>C
XM_024449593.1:c.1888-9458T>C XP_024305361.1:n.1888-9458T>C
XM_024449594.1:c.1888-9458T>C XP_024305362.1:n.1888-9458T>C
XM_024449595.1:c.1888-9458T>C XP_024305363.1:n.1888-9458T>C
XM_024449596.1:c.1888-9458T>C XP_024305364.1:n.1888-9458T>C
XM_024449597.1:c.1888-9458T>C XP_024305365.1:n.1888-9458T>C
XM_024449598.1:c.-68+949T>C XP_024305366.1:n.-68+949T>C
XR_002957554.1:n.2087-9458T>C
XR_002957555.1:n.2087-9458T>C
NM_001247990.2:c.-114T>C NP_001234919.1:n.-114T>C
NM_001329214.3:c.1888-9458T>C NP_001316143.1:n.1888-9458T>C
NM_001354140.2:c.-156+2055T>C NP_001341069.1:n.-156+2055T>C
NM_001354141.2:c.-114T>C NP_001341070.1:n.-114T>C
NM_001354144.2:c.-114T>C NP_001341073.1:n.-114T>C
NM_001354145.2:c.-68+2055T>C NP_001341074.1:n.-68+2055T>C
NM_001354146.2:c.27+2055T>C NP_001341075.1:n.27+2055T>C
NM_001354150.2:c.45+744T>C NP_001341079.1:n.45+744T>C
NM_001354151.2:c.17T>C NP_001341080.1:p.Val6Ala
NM_001354152.2:c.17T>C NP_001341081.1:p.Val6Ala
NM_001354153.2:c.17T>C NP_001341082.1:p.Val6Ala
NM_001354154.2:c.17T>C NP_001341083.1:p.Val6Ala
NM_001354155.2:c.17T>C NP_001341084.1:p.Val6Ala
NM_001354156.2:c.-114T>C NP_001341085.1:n.-114T>C
NM_001354157.2:c.17T>C NP_001341086.1:p.Val6Ala
NM_005930.4:c.17T>C NP_005921.2:p.Val6Ala
NM_203354.3:c.27+2055T>C NP_976229.1:n.27+2055T>C
NM_203355.3:c.17T>C NP_976230.1:p.Val6Ala
NR_148722.2:n.92T>C
NR_148723.2:n.92T>C
NM_001247989.2:c.17T>C NP_001234918.1:p.Val6Ala
NM_001329214.4:c.1888-9458T>C MANE Select NP_001316143.1:n.1888-9458T>C
NM_001354137.2:c.-25+437T>C NP_001341066.1:n.-25+437T>C
NM_001354139.2:c.-25+437T>C NP_001341068.1:n.-25+437T>C
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