Canonical Allele Identifier: CA402504369

Gene: SMAD2

Linked Data

• dbSNP Id: rs797044882
• MyVariant Identifiers: chr18:g.45374908C>T (hg19) ; chr18:g.47848537C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262160.11:c.935G>A MANE Select	ENSP00000262160.6:p.Cys312Tyr
ENST00000262160.10:c.935G>A	ENSP00000262160.6:p.Cys312Tyr
ENST00000356825.8:c.845G>A	ENSP00000349282.4:p.Cys282Tyr
ENST00000402690.6:c.935G>A	ENSP00000384449.1:p.Cys312Tyr
ENST00000586040.5:c.845G>A	ENSP00000466193.1:p.Cys282Tyr
ENST00000591214.5:c.845G>A	ENSP00000467075.1:p.Cys282Tyr
NM_001003652.3:c.935G>A	NP_001003652.1:p.Cys312Tyr
NM_001135937.2:c.845G>A	NP_001129409.1:p.Cys282Tyr
NM_005901.5:c.935G>A	NP_005892.1:p.Cys312Tyr
XM_005258259.2:c.935G>A	XP_005258316.1:p.Cys312Tyr
XM_006722451.2:c.935G>A	XP_006722514.1:p.Cys312Tyr
XM_011525983.1:c.845G>A	XP_011524285.1:p.Cys282Tyr
XM_011525984.1:c.809G>A	XP_011524286.1:p.Cys270Tyr
XM_011525985.1:c.776G>A	XP_011524287.1:p.Cys259Tyr
XM_011525986.1:c.215G>A	XP_011524288.1:p.Cys72Tyr
XM_005258259.4:c.935G>A	XP_005258316.1:p.Cys312Tyr
XM_006722451.4:c.935G>A	XP_006722514.1:p.Cys312Tyr
XM_011525984.2:c.809G>A	XP_011524286.1:p.Cys270Tyr
XM_011525985.3:c.776G>A	XP_011524287.1:p.Cys259Tyr
XM_017025745.2:c.935G>A	XP_016881234.1:p.Cys312Tyr
XM_017025746.2:c.845G>A	XP_016881235.1:p.Cys282Tyr
XM_017025747.2:c.788G>A	XP_016881236.1:p.Cys263Tyr
XM_017025748.2:c.776G>A	XP_016881237.1:p.Cys259Tyr
XM_017025750.2:c.215G>A	XP_016881239.1:p.Cys72Tyr
XM_024451173.1:c.935G>A	XP_024306941.1:p.Cys312Tyr
NM_001003652.4:c.935G>A	NP_001003652.1:p.Cys312Tyr
NM_005901.6:c.935G>A MANE Select	NP_005892.1:p.Cys312Tyr
NM_001135937.3:c.845G>A	NP_001129409.1:p.Cys282Tyr