Canonical Allele Identifier: CA16620692

Gene: SMAD2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.47869288C>A , CM000680.2:g.47869288C>A	GRCh38
NC_000018.9:g.45395659C>A , CM000680.1:g.45395659C>A	GRCh37
NC_000018.8:g.43649657C>A	NCBI36
NG_029946.1:g.66857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262160.11:c.475G>T MANE Select	ENSP00000262160.6:p.Glu159Ter
ENST00000262160.10:c.475G>T	ENSP00000262160.6:p.Glu159Ter
ENST00000356825.8:c.385G>T	ENSP00000349282.4:p.Glu129Ter
ENST00000402690.6:c.475G>T	ENSP00000384449.1:p.Glu159Ter
ENST00000586040.5:c.385G>T	ENSP00000466193.1:p.Glu129Ter
ENST00000586514.5:c.475G>T	ENSP00000465355.1:p.Glu159Ter
ENST00000587269.5:c.475G>T	ENSP00000466254.1:p.Glu159Ter
ENST00000587353.5:n.344G>T
ENST00000591214.5:c.385G>T	ENSP00000467075.1:p.Glu129Ter
NM_001003652.3:c.475G>T	NP_001003652.1:p.Glu159Ter
NM_001135937.2:c.385G>T	NP_001129409.1:p.Glu129Ter
NM_005901.5:c.475G>T	NP_005892.1:p.Glu159Ter
XM_005258259.2:c.475G>T	XP_005258316.1:p.Glu159Ter
XM_006722451.2:c.475G>T	XP_006722514.1:p.Glu159Ter
XM_011525983.1:c.385G>T	XP_011524285.1:p.Glu129Ter
XM_011525984.1:c.349G>T	XP_011524286.1:p.Glu117Ter
XM_011525985.1:c.316G>T	XP_011524287.1:p.Glu106Ter
XM_005258259.4:c.475G>T	XP_005258316.1:p.Glu159Ter
XM_006722451.4:c.475G>T	XP_006722514.1:p.Glu159Ter
XM_011525984.2:c.349G>T	XP_011524286.1:p.Glu117Ter
XM_011525985.3:c.316G>T	XP_011524287.1:p.Glu106Ter
XM_017025745.2:c.475G>T	XP_016881234.1:p.Glu159Ter
XM_017025746.2:c.385G>T	XP_016881235.1:p.Glu129Ter
XM_017025747.2:c.328G>T	XP_016881236.1:p.Glu110Ter
XM_017025748.2:c.316G>T	XP_016881237.1:p.Glu106Ter
XM_017025749.1:c.475G>T	XP_016881238.1:p.Glu159Ter
XM_017025750.2:c.-292G>T	XP_016881239.1:n.-292G>T
XM_024451173.1:c.475G>T	XP_024306941.1:p.Glu159Ter
NM_001003652.4:c.475G>T	NP_001003652.1:p.Glu159Ter
NM_005901.6:c.475G>T MANE Select	NP_005892.1:p.Glu159Ter
NM_001135937.3:c.385G>T	NP_001129409.1:p.Glu129Ter