Canonical Allele Identifier: CA15919767
Gene: SMAD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.47856234A>C , CM000680.2:g.47856234A>C GRCh38
NC_000018.9:g.45382605A>C , CM000680.1:g.45382605A>C GRCh37
NC_000018.8:g.43636603A>C NCBI36
NG_029946.1:g.79911T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262160.11:c.731-4907T>G MANE Select ENSP00000262160.6:n.731-4907T>G
ENST00000262160.10:c.731-4907T>G ENSP00000262160.6:n.731-4907T>G
ENST00000356825.8:c.641-4907T>G ENSP00000349282.4:n.641-4907T>G
ENST00000402690.6:c.731-4907T>G ENSP00000384449.1:n.731-4907T>G
ENST00000586040.5:c.641-4907T>G ENSP00000466193.1:n.641-4907T>G
ENST00000591214.5:c.641-4907T>G ENSP00000467075.1:n.641-4907T>G
NM_001003652.3:c.731-4907T>G NP_001003652.1:n.731-4907T>G
NM_001135937.2:c.641-4907T>G NP_001129409.1:n.641-4907T>G
NM_005901.5:c.731-4907T>G NP_005892.1:n.731-4907T>G
XM_005258259.2:c.731-4907T>G XP_005258316.1:n.731-4907T>G
XM_006722451.2:c.731-4907T>G XP_006722514.1:n.731-4907T>G
XM_011525983.1:c.641-4907T>G XP_011524285.1:n.641-4907T>G
XM_011525984.1:c.605-4907T>G XP_011524286.1:n.605-4907T>G
XM_011525985.1:c.572-4907T>G XP_011524287.1:n.572-4907T>G
XM_011525986.1:c.11-4907T>G XP_011524288.1:n.11-4907T>G
XM_005258259.4:c.731-4907T>G XP_005258316.1:n.731-4907T>G
XM_006722451.4:c.731-4907T>G XP_006722514.1:n.731-4907T>G
XM_011525984.2:c.605-4907T>G XP_011524286.1:n.605-4907T>G
XM_011525985.3:c.572-4907T>G XP_011524287.1:n.572-4907T>G
XM_017025745.2:c.731-4907T>G XP_016881234.1:n.731-4907T>G
XM_017025746.2:c.641-4907T>G XP_016881235.1:n.641-4907T>G
XM_017025747.2:c.584-4907T>G XP_016881236.1:n.584-4907T>G
XM_017025748.2:c.572-4907T>G XP_016881237.1:n.572-4907T>G
XM_017025750.2:c.11-4907T>G XP_016881239.1:n.11-4907T>G
XM_024451173.1:c.731-4907T>G XP_024306941.1:n.731-4907T>G
NM_001003652.4:c.731-4907T>G NP_001003652.1:n.731-4907T>G
NM_005901.6:c.731-4907T>G MANE Select NP_005892.1:n.731-4907T>G
NM_001135937.3:c.641-4907T>G NP_001129409.1:n.641-4907T>G