Canonical Allele Identifier: CA8956059

Gene: SMAD2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.47845444A>G , CM000680.2:g.47845444A>G	GRCh38
NC_000018.9:g.45371815A>G , CM000680.1:g.45371815A>G	GRCh37
NC_000018.8:g.43625813A>G	NCBI36
NG_029946.1:g.90701T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005901.6:c.1176T>C MANE Select	NP_005892.1:p.Ala392=
ENST00000262160.11:c.1176T>C MANE Select	ENSP00000262160.6:p.Ala392=
NM_001003652.3:c.1176T>C	NP_001003652.1:p.Ala392=
NM_001003652.4:c.1176T>C	NP_001003652.1:p.Ala392=
NM_001135937.2:c.1086T>C	NP_001129409.1:p.Ala362=
NM_001135937.3:c.1086T>C	NP_001129409.1:p.Ala362=
NM_005901.5:c.1176T>C	NP_005892.1:p.Ala392=
ENST00000262160.10:c.1176T>C	ENSP00000262160.6:p.Ala392=
ENST00000356825.8:c.1086T>C	ENSP00000349282.4:p.Ala362=
ENST00000402690.6:c.1176T>C	ENSP00000384449.1:p.Ala392=
ENST00000586040.5:c.1086T>C	ENSP00000466193.1:p.Ala362=
ENST00000591214.5:c.1086T>C	ENSP00000467075.1:p.Ala362=
XM_005258259.2:c.1176T>C	XP_005258316.1:p.Ala392=
XM_005258259.4:c.1176T>C	XP_005258316.1:p.Ala392=
XM_006722451.2:c.1176T>C	XP_006722514.1:p.Ala392=
XM_006722451.4:c.1176T>C	XP_006722514.1:p.Ala392=
XM_011525983.1:c.1086T>C	XP_011524285.1:p.Ala362=
XM_011525984.1:c.1050T>C	XP_011524286.1:p.Ala350=
XM_011525984.2:c.1050T>C	XP_011524286.1:p.Ala350=
XM_011525985.1:c.1017T>C	XP_011524287.1:p.Ala339=
XM_011525985.3:c.1017T>C	XP_011524287.1:p.Ala339=
XM_011525986.1:c.456T>C	XP_011524288.1:p.Ala152=
XM_017025745.2:c.1176T>C	XP_016881234.1:p.Ala392=
XM_017025746.2:c.1086T>C	XP_016881235.1:p.Ala362=
XM_017025747.2:c.1029T>C	XP_016881236.1:p.Ala343=
XM_017025748.2:c.1017T>C	XP_016881237.1:p.Ala339=
XM_017025750.2:c.456T>C	XP_016881239.1:p.Ala152=
XM_024451173.1:c.1176T>C	XP_024306941.1:p.Ala392=