Canonical Allele Identifier: CA2580612993

Gene: SMAD2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.47869259_47869260del , CM000680.2:g.47869259_47869260del	GRCh38
NC_000018.9:g.45395630_45395631del , CM000680.1:g.45395630_45395631del	GRCh37
NC_000018.8:g.43649628_43649629del	NCBI36
NG_029946.1:g.66889_66890del

Transcript Alleles

HGVS	Amino-acid Change
NM_005901.6:c.507_508del MANE Select	NP_005892.1:p.Arg169SerfsTer2
ENST00000262160.11:c.507_508del MANE Select	ENSP00000262160.6:p.Arg169SerfsTer2
NM_001003652.3:c.507_508del	NP_001003652.1:p.Arg169SerfsTer2
NM_001003652.4:c.507_508del	NP_001003652.1:p.Arg169SerfsTer2
NM_001135937.2:c.417_418del	NP_001129409.1:p.Arg139SerfsTer2
NM_001135937.3:c.417_418del	NP_001129409.1:p.Arg139SerfsTer2
NM_005901.5:c.507_508del	NP_005892.1:p.Arg169SerfsTer2
ENST00000262160.10:c.507_508del	ENSP00000262160.6:p.Arg169SerfsTer2
ENST00000356825.8:c.417_418del	ENSP00000349282.4:p.Arg139SerfsTer2
ENST00000402690.6:c.507_508del	ENSP00000384449.1:p.Arg169SerfsTer2
ENST00000586040.5:c.417_418del	ENSP00000466193.1:p.Arg139SerfsTer2
ENST00000586514.5:c.507_508del	ENSP00000465355.1:p.Arg169SerfsTer2
ENST00000587269.5:c.507_508del	ENSP00000466254.1:p.Arg169SerfsTer2
ENST00000587353.5:n.376_377del
ENST00000591214.5:c.417_418del	ENSP00000467075.1:p.Arg139SerfsTer2
XM_005258259.2:c.507_508del	XP_005258316.1:p.Arg169SerfsTer2
XM_005258259.4:c.507_508del	XP_005258316.1:p.Arg169SerfsTer2
XM_006722451.2:c.507_508del	XP_006722514.1:p.Arg169SerfsTer2
XM_006722451.4:c.507_508del	XP_006722514.1:p.Arg169SerfsTer2
XM_011525983.1:c.417_418del	XP_011524285.1:p.Arg139SerfsTer2
XM_011525984.1:c.381_382del	XP_011524286.1:p.Arg127SerfsTer2
XM_011525984.2:c.381_382del	XP_011524286.1:p.Arg127SerfsTer2
XM_011525985.1:c.348_349del	XP_011524287.1:p.Arg116SerfsTer2
XM_011525985.3:c.348_349del	XP_011524287.1:p.Arg116SerfsTer2
XM_017025745.2:c.507_508del	XP_016881234.1:p.Arg169SerfsTer2
XM_017025746.2:c.417_418del	XP_016881235.1:p.Arg139SerfsTer2
XM_017025747.2:c.360_361del	XP_016881236.1:p.Arg120SerfsTer2
XM_017025748.2:c.348_349del	XP_016881237.1:p.Arg116SerfsTer2
XM_017025749.1:c.507_508del	XP_016881238.1:p.Arg169SerfsTer2
XM_017025750.2:c.-260_-259del	XP_016881239.1:n.-260_-259del
XM_024451173.1:c.507_508del	XP_024306941.1:p.Arg169SerfsTer2