Canonical Allele Identifier: CA831508

Gene: MAST2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46029483G>A , CM000663.2:g.46029483G>A	GRCh38
NC_000001.10:g.46495155G>A , CM000663.1:g.46495155G>A	GRCh37
NC_000001.9:g.46267742G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361297.7:c.2236G>A MANE Select	ENSP00000354671.2:p.Glu746Lys
ENST00000674079.1:c.1807G>A	ENSP00000501318.1:p.Glu603Lys
ENST00000361297.6:c.2236G>A	ENSP00000354671.2:p.Glu746Lys
ENST00000372008.6:c.1891G>A	ENSP00000361078.2:p.Glu631Lys
ENST00000372009.3:c.1150G>A	ENSP00000361079.3:p.Glu384Lys
ENST00000477968.1:n.319G>A
NM_015112.2:c.2236G>A	NP_055927.2:p.Glu746Lys
XM_005270652.3:c.2257G>A	XP_005270709.1:p.Glu753Lys
XM_005270654.2:c.2236G>A	XP_005270711.1:p.Glu746Lys
XM_005270655.3:c.2002G>A	XP_005270712.1:p.Glu668Lys
XM_005270656.3:c.1975G>A	XP_005270713.1:p.Glu659Lys
XM_006710475.2:c.2254G>A	XP_006710538.1:p.Glu752Lys
XM_006710477.2:c.1807G>A	XP_006710540.1:p.Glu603Lys
XM_011541059.1:c.2452G>A	XP_011539361.1:p.Glu818Lys
XM_011541060.1:c.2449G>A	XP_011539362.1:p.Glu817Lys
XM_011541061.1:c.2452G>A	XP_011539363.1:p.Glu818Lys
XM_011541062.1:c.2431G>A	XP_011539364.1:p.Glu811Lys
XM_011541063.1:c.2302G>A	XP_011539365.1:p.Glu768Lys
XM_011541064.1:c.2293G>A	XP_011539366.1:p.Glu765Lys
XM_011541065.1:c.2035G>A	XP_011539367.1:p.Glu679Lys
XM_011541066.1:c.1774G>A	XP_011539368.1:p.Glu592Lys
XM_011541067.1:c.1771G>A	XP_011539369.1:p.Glu591Lys
XM_011541068.1:c.1750G>A	XP_011539370.1:p.Glu584Lys
XM_011541069.1:c.2452G>A	XP_011539371.1:p.Glu818Lys
NM_001319245.1:c.2236G>A	NP_001306174.1:p.Glu746Lys
NM_001324320.1:c.2257G>A	NP_001311249.1:p.Glu753Lys
NM_001324321.1:c.1774G>A	NP_001311250.1:p.Glu592Lys
XM_005270656.5:c.1975G>A	XP_005270713.1:p.Glu659Lys
XM_006710477.3:c.1807G>A	XP_006710540.1:p.Glu603Lys
XM_011541059.2:c.2452G>A	XP_011539361.1:p.Glu818Lys
XM_011541061.2:c.2452G>A	XP_011539363.1:p.Glu818Lys
XM_011541062.2:c.2431G>A	XP_011539364.1:p.Glu811Lys
XM_011541064.2:c.2293G>A	XP_011539366.1:p.Glu765Lys
XM_011541067.2:c.1771G>A	XP_011539369.1:p.Glu591Lys
XM_011541069.2:c.2452G>A	XP_011539371.1:p.Glu818Lys
XM_017000752.1:c.2023G>A	XP_016856241.1:p.Glu675Lys
XM_017000753.1:c.1912G>A	XP_016856242.1:p.Glu638Lys
XM_017000754.1:c.1891G>A	XP_016856243.1:p.Glu631Lys
XM_017000755.1:c.1828G>A	XP_016856244.1:p.Glu610Lys
NM_015112.3:c.2236G>A MANE Select	NP_055927.2:p.Glu746Lys
NM_001319245.2:c.2236G>A	NP_001306174.1:p.Glu746Lys
NM_001324320.2:c.2257G>A	NP_001311249.1:p.Glu753Lys
NM_001324321.2:c.1774G>A	NP_001311250.1:p.Glu592Lys