Canonical Allele Identifier: CA389564029

Gene: MIA2

Linked Data

• dbSNP Id: rs1060878
• COSMIC: COSM3677963 ; COSM3677964
• MyVariant Identifiers: chr14:g.39818145G>T (hg19) ; chr14:g.39348941G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.39348941G>T , CM000676.2:g.39348941G>T	GRCh38
NC_000014.8:g.39818145G>T , CM000676.1:g.39818145G>T	GRCh37
NC_000014.7:g.38887896G>T	NCBI36
NG_030349.1:g.88670G>T
NG_030349.3:g.120021G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000640607.2:c.4036G>T MANE Select	ENSP00000491014.1:p.Gly1346Trp
ENST00000640607.1:c.4036G>T	ENSP00000491014.1:p.Gly1346Trp
ENST00000280083.7:c.2212G>T	ENSP00000280083.3:p.Gly738Trp
ENST00000341502.9:c.2212G>T	ENSP00000339286.5:p.Gly738Trp
ENST00000341749.7:c.2176G>T	ENSP00000343897.3:p.Gly726Trp
ENST00000348007.7:c.2083G>T	ENSP00000343912.3:p.Gly695Trp
ENST00000396158.6:c.2227G>T	ENSP00000379462.2:p.Gly743Trp
ENST00000396165.8:c.2125G>T	ENSP00000379468.4:p.Gly709Trp
ENST00000553352.1:c.2125G>T	ENSP00000450449.1:p.Gly709Trp
ENST00000553383.1:n.426G>T
ENST00000553728.1:c.3817G>T	ENSP00000452252.1:p.Gly1273Trp
ENST00000556148.5:c.1987G>T	ENSP00000452562.1:p.Gly663Trp
ENST00000557038.5:c.1972G>T	ENSP00000450869.1:p.Gly658Trp
NM_001247988.1:c.1996G>T	NP_001234917.1:p.Gly666Trp
NM_001247989.1:c.2227G>T	NP_001234918.1:p.Gly743Trp
NM_001247990.1:c.1987G>T	NP_001234919.1:p.Gly663Trp
NM_005930.3:c.2212G>T	NP_005921.2:p.Gly738Trp
NM_203354.2:c.2176G>T	NP_976229.1:p.Gly726Trp
NM_203355.2:c.2083G>T	NP_976230.1:p.Gly695Trp
NM_203356.2:c.2125G>T	NP_976231.1:p.Gly709Trp
XM_005267648.3:c.2194G>T	XP_005267705.1:p.Gly732Trp
XM_006720148.1:c.2125G>T	XP_006720211.1:p.Gly709Trp
XM_011536775.1:c.2239G>T	XP_011535077.1:p.Gly747Trp
XM_011536776.1:c.2221G>T	XP_011535078.1:p.Gly741Trp
XM_011536778.1:c.2203G>T	XP_011535080.1:p.Gly735Trp
XM_011536779.1:c.2152G>T	XP_011535081.1:p.Gly718Trp
XM_011536780.1:c.2152G>T	XP_011535082.1:p.Gly718Trp
XM_011536781.1:c.2152G>T	XP_011535083.1:p.Gly718Trp
XM_011536782.1:c.1999G>T	XP_011535084.1:p.Gly667Trp
XM_011536783.1:c.1999G>T	XP_011535085.1:p.Gly667Trp
XM_011536784.1:c.1972G>T	XP_011535086.1:p.Gly658Trp
XM_011536785.1:c.1972G>T	XP_011535087.1:p.Gly658Trp
NM_001329214.2:c.4036G>T	NP_001316143.1:p.Gly1346Trp
NM_001354137.1:c.2125G>T	NP_001341066.1:p.Gly709Trp
NM_001354138.1:c.2125G>T	NP_001341067.1:p.Gly709Trp
NM_001354139.1:c.1996G>T	NP_001341068.1:p.Gly666Trp
NM_001354140.1:c.1972G>T	NP_001341069.1:p.Gly658Trp
NM_001354141.1:c.1972G>T	NP_001341070.1:p.Gly658Trp
NM_001354142.1:c.1843G>T	NP_001341071.1:p.Gly615Trp
NM_001354143.1:c.1843G>T	NP_001341072.1:p.Gly615Trp
NM_001354144.1:c.1843G>T	NP_001341073.1:p.Gly615Trp
NM_001354145.1:c.1843G>T	NP_001341074.1:p.Gly615Trp
NM_001354146.1:c.2047G>T	NP_001341075.1:p.Gly683Trp
NM_001354147.1:c.2047G>T	NP_001341076.1:p.Gly683Trp
NM_001354148.1:c.2125G>T	NP_001341077.1:p.Gly709Trp
NM_001354149.1:c.1918G>T	NP_001341078.1:p.Gly640Trp
NM_001354150.1:c.2194G>T	NP_001341079.1:p.Gly732Trp
NM_001354151.1:c.2239G>T	NP_001341080.1:p.Gly747Trp
NM_001354152.1:c.2110G>T	NP_001341081.1:p.Gly704Trp
NM_001354153.1:c.2005G>T	NP_001341082.1:p.Gly669Trp
NM_001354154.1:c.2212G>T	NP_001341083.1:p.Gly738Trp
NM_001354155.1:c.2083G>T	NP_001341084.1:p.Gly695Trp
NM_001354156.1:c.1894G>T	NP_001341085.1:p.Gly632Trp
NM_001354157.1:c.2134G>T	NP_001341086.1:p.Gly712Trp
NR_148721.1:n.2286G>T
NR_148722.1:n.2584G>T
NR_148723.1:n.2474G>T
XM_011536778.2:c.2203G>T	XP_011535080.1:p.Gly735Trp
XM_011536785.2:c.1972G>T	XP_011535087.1:p.Gly658Trp
XM_017021314.1:c.2254G>T	XP_016876803.1:p.Gly752Trp
XM_017021315.2:c.2236G>T	XP_016876804.1:p.Gly746Trp
XM_017021316.1:c.2218G>T	XP_016876805.1:p.Gly740Trp
XM_017021317.2:c.2167G>T	XP_016876806.1:p.Gly723Trp
XM_017021318.1:c.2167G>T	XP_016876807.1:p.Gly723Trp
XM_017021319.1:c.2167G>T	XP_016876808.1:p.Gly723Trp
XM_017021323.1:c.2014G>T	XP_016876812.1:p.Gly672Trp
XM_017021324.2:c.2014G>T	XP_016876813.1:p.Gly672Trp
XM_017021327.1:c.1843G>T	XP_016876816.1:p.Gly615Trp
XM_017021330.1:c.2167G>T	XP_016876819.1:p.Gly723Trp
XM_024449592.1:c.4078G>T	XP_024305360.1:p.Gly1360Trp
XM_024449593.1:c.4063G>T	XP_024305361.1:p.Gly1355Trp
XM_024449594.1:c.4051G>T	XP_024305362.1:p.Gly1351Trp
XM_024449595.1:c.3949G>T	XP_024305363.1:p.Gly1317Trp
XM_024449596.1:c.3907G>T	XP_024305364.1:p.Gly1303Trp
XM_024449598.1:c.2014G>T	XP_024305366.1:p.Gly672Trp
NM_001247990.2:c.1987G>T	NP_001234919.1:p.Gly663Trp
NM_001329214.3:c.4036G>T	NP_001316143.1:p.Gly1346Trp
NM_001354140.2:c.1972G>T	NP_001341069.1:p.Gly658Trp
NM_001354141.2:c.1972G>T	NP_001341070.1:p.Gly658Trp
NM_001354144.2:c.1843G>T	NP_001341073.1:p.Gly615Trp
NM_001354145.2:c.1843G>T	NP_001341074.1:p.Gly615Trp
NM_001354146.2:c.2047G>T	NP_001341075.1:p.Gly683Trp
NM_001354150.2:c.2194G>T	NP_001341079.1:p.Gly732Trp
NM_001354151.2:c.2239G>T	NP_001341080.1:p.Gly747Trp
NM_001354152.2:c.2110G>T	NP_001341081.1:p.Gly704Trp
NM_001354153.2:c.2005G>T	NP_001341082.1:p.Gly669Trp
NM_001354154.2:c.2212G>T	NP_001341083.1:p.Gly738Trp
NM_001354155.2:c.2083G>T	NP_001341084.1:p.Gly695Trp
NM_001354156.2:c.1894G>T	NP_001341085.1:p.Gly632Trp
NM_001354157.2:c.2134G>T	NP_001341086.1:p.Gly712Trp
NM_005930.4:c.2212G>T	NP_005921.2:p.Gly738Trp
NM_203354.3:c.2176G>T	NP_976229.1:p.Gly726Trp
NM_203355.3:c.2083G>T	NP_976230.1:p.Gly695Trp
NR_148722.2:n.2323G>T
NR_148723.2:n.2213G>T
NM_001247989.2:c.2227G>T	NP_001234918.1:p.Gly743Trp
NM_001329214.4:c.4036G>T MANE Select	NP_001316143.1:p.Gly1346Trp
NM_001354137.2:c.2125G>T	NP_001341066.1:p.Gly709Trp
NM_001354139.2:c.1996G>T	NP_001341068.1:p.Gly666Trp