Canonical Allele Identifier: CA2991142122
Community Standard Title: NM_015112.3(MAST2):c.2219-80del
Gene: MAST2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46029386del , CM000663.2:g.46029386del GRCh38
NC_000001.10:g.46495058del , CM000663.1:g.46495058del GRCh37
NC_000001.9:g.46267645del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015112.3:c.2219-80del MANE Select NP_055927.2:n.2219-80del
ENST00000361297.7:c.2219-80del MANE Select ENSP00000354671.2:n.2219-80del
NM_001319245.1:c.2219-80del NP_001306174.1:n.2219-80del
NM_001319245.2:c.2219-80del NP_001306174.1:n.2219-80del
NM_001324320.1:c.2240-80del NP_001311249.1:n.2240-80del
NM_001324320.2:c.2240-80del NP_001311249.1:n.2240-80del
NM_001324321.1:c.1757-80del NP_001311250.1:n.1757-80del
NM_001324321.2:c.1757-80del NP_001311250.1:n.1757-80del
NM_015112.2:c.2219-80del NP_055927.2:n.2219-80del
ENST00000361297.6:c.2219-80del ENSP00000354671.2:n.2219-80del
ENST00000372008.6:c.1874-80del ENSP00000361078.2:n.1874-80del
ENST00000372009.3:c.1133-80del ENSP00000361079.3:n.1133-80del
ENST00000477968.1:n.222del
ENST00000674079.1:c.1790-80del ENSP00000501318.1:n.1790-80del
XM_005270652.3:c.2240-80del XP_005270709.1:n.2240-80del
XM_005270654.2:c.2219-80del XP_005270711.1:n.2219-80del
XM_005270655.3:c.1985-80del XP_005270712.1:n.1985-80del
XM_005270656.3:c.1958-80del XP_005270713.1:n.1958-80del
XM_005270656.5:c.1958-80del XP_005270713.1:n.1958-80del
XM_006710475.2:c.2237-80del XP_006710538.1:n.2237-80del
XM_006710477.2:c.1790-80del XP_006710540.1:n.1790-80del
XM_006710477.3:c.1790-80del XP_006710540.1:n.1790-80del
XM_011541059.1:c.2435-80del XP_011539361.1:n.2435-80del
XM_011541059.2:c.2435-80del XP_011539361.1:n.2435-80del
XM_011541060.1:c.2432-80del XP_011539362.1:n.2432-80del
XM_011541061.1:c.2435-80del XP_011539363.1:n.2435-80del
XM_011541061.2:c.2435-80del XP_011539363.1:n.2435-80del
XM_011541062.1:c.2414-80del XP_011539364.1:n.2414-80del
XM_011541062.2:c.2414-80del XP_011539364.1:n.2414-80del
XM_011541063.1:c.2285-80del XP_011539365.1:n.2285-80del
XM_011541064.1:c.2276-80del XP_011539366.1:n.2276-80del
XM_011541064.2:c.2276-80del XP_011539366.1:n.2276-80del
XM_011541065.1:c.2018-80del XP_011539367.1:n.2018-80del
XM_011541066.1:c.1757-80del XP_011539368.1:n.1757-80del
XM_011541067.1:c.1754-80del XP_011539369.1:n.1754-80del
XM_011541067.2:c.1754-80del XP_011539369.1:n.1754-80del
XM_011541068.1:c.1733-80del XP_011539370.1:n.1733-80del
XM_011541069.1:c.2435-80del XP_011539371.1:n.2435-80del
XM_011541069.2:c.2435-80del XP_011539371.1:n.2435-80del
XM_017000752.1:c.2006-80del XP_016856241.1:n.2006-80del
XM_017000753.1:c.1895-80del XP_016856242.1:n.1895-80del
XM_017000754.1:c.1874-80del XP_016856243.1:n.1874-80del
XM_017000755.1:c.1811-80del XP_016856244.1:n.1811-80del