Canonical Allele Identifier: CA8956045

Gene: SMAD2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.47845321C>T , CM000680.2:g.47845321C>T	GRCh38
NC_000018.9:g.45371692C>T , CM000680.1:g.45371692C>T	GRCh37
NC_000018.8:g.43625690C>T	NCBI36
NG_029946.1:g.90824G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005901.6:c.1280+19G>A MANE Select	NP_005892.1:n.1280+19G>A
ENST00000262160.11:c.1280+19G>A MANE Select	ENSP00000262160.6:n.1280+19G>A
NM_001003652.3:c.1280+19G>A	NP_001003652.1:n.1280+19G>A
NM_001003652.4:c.1280+19G>A	NP_001003652.1:n.1280+19G>A
NM_001135937.2:c.1190+19G>A	NP_001129409.1:n.1190+19G>A
NM_001135937.3:c.1190+19G>A	NP_001129409.1:n.1190+19G>A
NM_005901.5:c.1280+19G>A	NP_005892.1:n.1280+19G>A
ENST00000262160.10:c.1280+19G>A	ENSP00000262160.6:n.1280+19G>A
ENST00000356825.8:c.1190+19G>A	ENSP00000349282.4:n.1190+19G>A
ENST00000402690.6:c.1280+19G>A	ENSP00000384449.1:n.1280+19G>A
ENST00000586040.5:c.1190+19G>A	ENSP00000466193.1:n.1190+19G>A
ENST00000591214.5:c.1209G>A	ENSP00000467075.1:p.Trp403Ter
XM_005258259.2:c.1280+19G>A	XP_005258316.1:n.1280+19G>A
XM_005258259.4:c.1280+19G>A	XP_005258316.1:n.1280+19G>A
XM_006722451.2:c.1280+19G>A	XP_006722514.1:n.1280+19G>A
XM_006722451.4:c.1280+19G>A	XP_006722514.1:n.1280+19G>A
XM_011525983.1:c.1190+19G>A	XP_011524285.1:n.1190+19G>A
XM_011525984.1:c.1154+19G>A	XP_011524286.1:n.1154+19G>A
XM_011525984.2:c.1154+19G>A	XP_011524286.1:n.1154+19G>A
XM_011525985.1:c.1121+19G>A	XP_011524287.1:n.1121+19G>A
XM_011525985.3:c.1121+19G>A	XP_011524287.1:n.1121+19G>A
XM_011525986.1:c.560+19G>A	XP_011524288.1:n.560+19G>A
XM_017025745.2:c.1280+19G>A	XP_016881234.1:n.1280+19G>A
XM_017025746.2:c.1190+19G>A	XP_016881235.1:n.1190+19G>A
XM_017025747.2:c.1133+19G>A	XP_016881236.1:n.1133+19G>A
XM_017025748.2:c.1121+19G>A	XP_016881237.1:n.1121+19G>A
XM_017025750.2:c.560+19G>A	XP_016881239.1:n.560+19G>A
XM_024451173.1:c.1280+19G>A	XP_024306941.1:n.1280+19G>A