Canonical Allele Identifier: CA232157

Linked Data

ClinVar Variation Id: 91918
ClinVar RCV Id: RCV000122475
dbSNP Id: rs386352308

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24238360C>T , CM000676.2:g.24238360C>T GRCh38
NC_000014.8:g.24707566C>T , CM000676.1:g.24707566C>T GRCh37
NC_000014.7:g.23777406C>T NCBI36
NG_016650.1:g.9315G>A
NG_054634.1:g.10944C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699682.1:n.3510G>A (TINF2)
ENST00000399440.7:c.812C>T (GMPR2) MANE Select ENSP00000382369.2:p.Ser271Phe
ENST00000348719.11:c.815C>T (GMPR2) ENSP00000334409.10:p.Ser272Phe
ENST00000355299.8:c.812C>T (GMPR2) ENSP00000347449.4:p.Ser271Phe
ENST00000399440.6:c.812C>T (GMPR2) ENSP00000382369.2:p.Ser271Phe
ENST00000420554.6:c.866C>T (GMPR2) ENSP00000392859.2:p.Ser289Phe
ENST00000456667.7:c.728C>T (GMPR2) ENSP00000405743.3:p.Ser243Phe
ENST00000557854.5:c.866C>T (GMPR2) ENSP00000454038.1:p.Ser289Phe
ENST00000558007.1:n.173C>T (GMPR2)
ENST00000558483.5:c.392C>T (GMPR2) ENSP00000453139.1:p.Ser131Phe
ENST00000558748.1:c.115C>T (GMPR2)
ENST00000558865.5:c.350C>T (GMPR2) ENSP00000454138.1:p.Ser117Phe
ENST00000559104.5:c.767C>T (GMPR2) ENSP00000453355.1:p.Ser256Phe
ENST00000559287.5:c.*608C>T (GMPR2) ENSP00000453594.1:n.*608C>T
ENST00000559479.1:c.30C>T (GMPR2)
ENST00000559836.5:c.812C>T (GMPR2) ENSP00000453299.1:p.Ser271Phe
ENST00000559910.5:c.713C>T (GMPR2) ENSP00000453537.1:p.Ser238Phe
ENST00000559943.1:c.123-229C>T (GMPR2)
ENST00000561038.5:c.*734C>T (GMPR2) ENSP00000452670.1:n.*734C>T
ENST00000620807.4:c.812C>T (GMPR2) ENSP00000480342.1:p.Ser271Phe
NM_001002000.2:c.812C>T (GMPR2) NP_001002000.1:p.Ser271Phe
NM_001002001.2:c.812C>T (GMPR2) NP_001002001.1:p.Ser271Phe
NM_001002002.2:c.812C>T (GMPR2) NP_001002002.1:p.Ser271Phe
NM_001283021.1:c.704C>T (GMPR2) NP_001269950.1:p.Ser235Phe
NM_001283022.1:c.866C>T (GMPR2) NP_001269951.1:p.Ser289Phe
NM_001283023.1:c.728C>T (GMPR2) NP_001269952.1:p.Ser243Phe
NM_016576.4:c.866C>T (GMPR2) NP_057660.2:p.Ser289Phe
NR_104265.1:n.1297C>T (GMPR2)
XM_005267528.2:c.1221+1704G>A (TINF2) XP_005267585.1:n.1221+1704G>A
XM_005267740.3:c.812C>T (GMPR2) XP_005267797.1:p.Ser271Phe
XM_005267741.3:c.812C>T (GMPR2) XP_005267798.1:p.Ser271Phe
XM_005267742.2:c.812C>T (GMPR2) XP_005267799.1:p.Ser271Phe
XM_006720165.2:c.704C>T (GMPR2) XP_006720228.1:p.Ser235Phe
NM_001351022.1:c.812C>T (GMPR2) NP_001337951.1:p.Ser271Phe
NM_001351023.1:c.812C>T (GMPR2) NP_001337952.1:p.Ser271Phe
NM_001351024.1:c.704C>T (GMPR2) NP_001337953.1:p.Ser235Phe
NM_001351025.1:c.704C>T (GMPR2) NP_001337954.1:p.Ser235Phe
NM_001351026.1:c.704C>T (GMPR2) NP_001337955.1:p.Ser235Phe
XM_005267742.3:c.812C>T (GMPR2) XP_005267799.1:p.Ser271Phe
XM_017021356.1:c.704C>T (GMPR2) XP_016876845.1:p.Ser235Phe
XM_017021360.1:c.323C>T (GMPR2) XP_016876849.1:p.Ser108Phe
NM_001002000.3:c.812C>T (GMPR2) NP_001002000.1:p.Ser271Phe
NM_001002001.3:c.812C>T (GMPR2) NP_001002001.1:p.Ser271Phe
NM_001002002.3:c.812C>T (GMPR2) MANE Select NP_001002002.1:p.Ser271Phe
NM_001283021.2:c.704C>T (GMPR2) NP_001269950.1:p.Ser235Phe
NM_001283022.2:c.866C>T (GMPR2) NP_001269951.1:p.Ser289Phe
NM_001283023.2:c.728C>T (GMPR2) NP_001269952.1:p.Ser243Phe
NM_001351022.2:c.812C>T (GMPR2) NP_001337951.1:p.Ser271Phe
NM_001351023.2:c.812C>T (GMPR2) NP_001337952.1:p.Ser271Phe
NM_001351024.2:c.704C>T (GMPR2) NP_001337953.1:p.Ser235Phe
NM_001351025.2:c.704C>T (GMPR2) NP_001337954.1:p.Ser235Phe
NM_001351026.2:c.704C>T (GMPR2) NP_001337955.1:p.Ser235Phe
NM_016576.5:c.866C>T (GMPR2) NP_057660.2:p.Ser289Phe
NR_104265.2:n.1097C>T (GMPR2)