Canonical Allele Identifier: CA2301465167
Community Standard Title: NM_005901.6(SMAD2):c.935G= (p.Cys312=)
Gene: SMAD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.47848537C= , CM000680.2:g.47848537C= GRCh38
NC_000018.9:g.45374908C= , CM000680.1:g.45374908C= GRCh37
NC_000018.8:g.43628906C= NCBI36
NG_029946.1:g.87608G=

Transcript Alleles

HGVS Amino-acid Change
NM_005901.6:c.935G= MANE Select NP_005892.1:p.Cys312=
ENST00000262160.11:c.935G= MANE Select ENSP00000262160.6:p.Cys312=
NM_001003652.3:c.935G= NP_001003652.1:p.Cys312=
NM_001003652.4:c.935G= NP_001003652.1:p.Cys312=
NM_001135937.2:c.845G= NP_001129409.1:p.Cys282=
NM_001135937.3:c.845G= NP_001129409.1:p.Cys282=
NM_005901.5:c.935G= NP_005892.1:p.Cys312=
ENST00000262160.10:c.935G= ENSP00000262160.6:p.Cys312=
ENST00000356825.8:c.845G= ENSP00000349282.4:p.Cys282=
ENST00000402690.6:c.935G= ENSP00000384449.1:p.Cys312=
ENST00000586040.5:c.845G= ENSP00000466193.1:p.Cys282=
ENST00000591214.5:c.845G= ENSP00000467075.1:p.Cys282=
XM_005258259.2:c.935G= XP_005258316.1:p.Cys312=
XM_005258259.4:c.935G= XP_005258316.1:p.Cys312=
XM_006722451.2:c.935G= XP_006722514.1:p.Cys312=
XM_006722451.4:c.935G= XP_006722514.1:p.Cys312=
XM_011525983.1:c.845G= XP_011524285.1:p.Cys282=
XM_011525984.1:c.809G= XP_011524286.1:p.Cys270=
XM_011525984.2:c.809G= XP_011524286.1:p.Cys270=
XM_011525985.1:c.776G= XP_011524287.1:p.Cys259=
XM_011525985.3:c.776G= XP_011524287.1:p.Cys259=
XM_011525986.1:c.215G= XP_011524288.1:p.Cys72=
XM_017025745.2:c.935G= XP_016881234.1:p.Cys312=
XM_017025746.2:c.845G= XP_016881235.1:p.Cys282=
XM_017025747.2:c.788G= XP_016881236.1:p.Cys263=
XM_017025748.2:c.776G= XP_016881237.1:p.Cys259=
XM_017025750.2:c.215G= XP_016881239.1:p.Cys72=
XM_024451173.1:c.935G= XP_024306941.1:p.Cys312=