Canonical Allele Identifier: CA351478608
Gene: TSEN2 HGNC NCBI
MKRN2OS HGNC NCBI

Linked Data

dbSNP Id: rs1281254942
gnomAD v3: 3-12532716-C-G
gnomAD v4: 3-12532716-C-G
MyVariant Identifiers: chr3:g.12574215C>G (hg19) chr3:g.12532716C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12532716C>G , CM000665.2:g.12532716C>G GRCh38
NC_000003.11:g.12574215C>G , CM000665.1:g.12574215C>G GRCh37
NC_000003.10:g.12549215C>G NCBI36
NG_011521.1:g.53285C>G
NG_011521.2:g.53285C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284995.11:c.1393C>G (TSEN2) MANE Select ENSP00000284995.6:p.Leu465Val
ENST00000412698.3:c.1260+1057C>G (TSEN2) ENSP00000408528.3:n.1260+1057C>G
ENST00000415684.6:c.1315C>G (TSEN2) ENSP00000416510.1:p.Leu439Val
ENST00000444864.6:c.1260+1057C>G (TSEN2) ENSP00000407974.2:n.1260+1057C>G
ENST00000446004.6:c.1338+1057C>G (TSEN2) ENSP00000406238.2:n.1338+1057C>G
ENST00000455118.6:c.*234C>G (TSEN2) ENSP00000408744.2:n.*234C>G
ENST00000475595.2:n.4076C>G (TSEN2)
ENST00000679367.1:c.*1012C>G (TSEN2) ENSP00000506510.1:n.*1012C>G
ENST00000679420.1:n.1566C>G (TSEN2)
ENST00000679424.1:c.*1236C>G (TSEN2) ENSP00000505917.1:n.*1236C>G
ENST00000679425.1:c.1393C>G (TSEN2) ENSP00000505890.1:p.Leu465Val
ENST00000679492.1:c.1338+1057C>G (TSEN2) ENSP00000505331.1:n.1338+1057C>G
ENST00000679555.1:c.*1116C>G (TSEN2) ENSP00000505538.1:n.*1116C>G
ENST00000679670.1:c.1315C>G (TSEN2) ENSP00000506080.1:p.Leu439Val
ENST00000679690.1:c.*392C>G (TSEN2) ENSP00000506383.1:n.*392C>G
ENST00000679693.1:c.*175+1057C>G (TSEN2) ENSP00000505108.1:n.*175+1057C>G
ENST00000679699.1:c.1393C>G (TSEN2) ENSP00000505274.1:p.Leu465Val
ENST00000679756.1:c.1342C>G (TSEN2) ENSP00000506391.1:p.Leu448Val
ENST00000679785.1:c.*234C>G (TSEN2) ENSP00000506473.1:n.*234C>G
ENST00000679835.1:c.*582C>G (TSEN2) ENSP00000505616.1:n.*582C>G
ENST00000679876.1:c.1209+1057C>G (TSEN2) ENSP00000504930.1:n.1209+1057C>G
ENST00000679995.1:c.*234C>G (TSEN2) ENSP00000505221.1:n.*234C>G
ENST00000680126.1:c.*1232C>G (TSEN2) ENSP00000505345.1:n.*1232C>G
ENST00000680264.1:c.*527+1057C>G (TSEN2) ENSP00000505273.1:n.*527+1057C>G
ENST00000680275.1:c.1450C>G (TSEN2) ENSP00000505417.1:p.Leu484Val
ENST00000680354.1:c.1372C>G (TSEN2) ENSP00000505106.1:p.Leu458Val
ENST00000680376.1:c.*582C>G (TSEN2) ENSP00000506369.1:n.*582C>G
ENST00000680421.1:c.1264C>G (TSEN2) ENSP00000505530.1:p.Leu422Val
ENST00000680449.1:c.*535C>G (TSEN2) ENSP00000505709.1:n.*535C>G
ENST00000680458.1:c.*208C>G (TSEN2) ENSP00000505979.1:n.*208C>G
ENST00000680555.1:c.*234C>G (TSEN2) ENSP00000505160.1:n.*234C>G
ENST00000680598.1:c.1342C>G (TSEN2) ENSP00000506297.1:p.Leu448Val
ENST00000680765.1:c.*234C>G (TSEN2) ENSP00000505351.1:n.*234C>G
ENST00000680817.1:c.1264C>G (TSEN2) ENSP00000506221.1:p.Leu422Val
ENST00000680857.1:c.1338+1057C>G (TSEN2) ENSP00000506578.1:n.1338+1057C>G
ENST00000680873.1:c.*545C>G (TSEN2) ENSP00000505233.1:n.*545C>G
ENST00000680923.1:c.*582C>G (TSEN2) ENSP00000505344.1:n.*582C>G
ENST00000680943.1:c.1342C>G (TSEN2) ENSP00000505442.1:p.Leu448Val
ENST00000680986.1:c.1393C>G (TSEN2) ENSP00000505799.1:p.Leu465Val
ENST00000681042.1:c.1100-6445C>G (TSEN2) ENSP00000505622.1:n.1100-6445C>G
ENST00000681073.1:c.*234C>G (TSEN2) ENSP00000506576.1:n.*234C>G
ENST00000681140.1:c.1393C>G (TSEN2) ENSP00000505099.1:p.Leu465Val
ENST00000681227.1:c.*265C>G (TSEN2) ENSP00000505240.1:n.*265C>G
ENST00000681268.1:c.*1537C>G (TSEN2) ENSP00000505385.1:n.*1537C>G
ENST00000681343.1:c.*1012C>G (TSEN2) ENSP00000506265.1:n.*1012C>G
ENST00000681433.1:c.*234C>G (TSEN2) ENSP00000505729.1:n.*234C>G
ENST00000681471.1:c.1315C>G (TSEN2) ENSP00000505105.1:p.Leu439Val
ENST00000681482.1:c.1393C>G (TSEN2) ENSP00000505436.1:p.Leu465Val
ENST00000681676.1:c.1315C>G (TSEN2) ENSP00000506163.1:p.Leu439Val
ENST00000681713.1:c.*1012C>G (TSEN2) ENSP00000506046.1:n.*1012C>G
ENST00000284995.10:c.1393C>G (TSEN2) ENSP00000284995.6:p.Leu465Val
ENST00000402228.7:c.1393C>G (TSEN2) ENSP00000385976.3:p.Leu465Val
ENST00000412698.2:c.93+1057C>G (TSEN2) ENSP00000408528.2:n.93+1057C>G
ENST00000415684.5:c.1315C>G (TSEN2) ENSP00000416510.1:p.Leu439Val
ENST00000454502.6:c.1216C>G (TSEN2) ENSP00000392029.2:p.Leu406Val
ENST00000455118.5:c.240C>G (TSEN2)
ENST00000473755.5:n.3398C>G (TSEN2)
ENST00000475595.1:n.239C>G (TSEN2)
ENST00000567514.1:n.715+6791G>C (MKRN2OS)
NM_001145392.1:c.1393C>G (TSEN2) NP_001138864.1:p.Leu465Val
NM_001145393.1:c.1315C>G (TSEN2) NP_001138865.1:p.Leu439Val
NM_001145394.1:c.1216C>G (TSEN2) NP_001138866.1:p.Leu406Val
NM_025265.3:c.1393C>G (TSEN2) NP_079541.1:p.Leu465Val
XM_005265495.1:c.1393C>G (TSEN2) XP_005265552.1:p.Leu465Val
XM_005265497.1:c.1315C>G (TSEN2) XP_005265554.1:p.Leu439Val
XM_005265498.1:c.1264C>G (TSEN2) XP_005265555.1:p.Leu422Val
XM_011534138.1:c.1126C>G (TSEN2) XP_011532440.1:p.Leu376Val
XM_011534139.1:c.1120C>G (TSEN2) XP_011532441.1:p.Leu374Val
XR_245158.1:n.1496C>G (TSEN2)
XR_245159.3:n.1496C>G (TSEN2)
XR_427295.2:n.3398C>G (TSEN2)
XR_427296.1:n.1306C>G (TSEN2)
NM_001145393.2:c.1315C>G (TSEN2) NP_001138865.1:p.Leu439Val
NM_001321277.1:c.1393C>G (TSEN2) NP_001308206.1:p.Leu465Val
NM_001321278.1:c.1338+1057C>G (TSEN2) NP_001308207.1:n.1338+1057C>G
NM_001321279.1:c.1315C>G (TSEN2) NP_001308208.1:p.Leu439Val
NR_135607.1:n.1496C>G (TSEN2)
XM_011534139.3:c.1120C>G (TSEN2) XP_011532441.1:p.Leu374Val
XM_017007292.1:c.1450C>G (TSEN2) XP_016862781.1:p.Leu484Val
XM_017007293.1:c.1450C>G (TSEN2) XP_016862782.1:p.Leu484Val
XM_017007294.1:c.1450C>G (TSEN2) XP_016862783.1:p.Leu484Val
XM_017007295.2:c.1450C>G (TSEN2) XP_016862784.1:p.Leu484Val
XM_017007296.2:c.1393C>G (TSEN2) XP_016862785.1:p.Leu465Val
XM_017007297.1:c.1372C>G (TSEN2) XP_016862786.1:p.Leu458Val
XM_024453785.1:c.1315C>G (TSEN2) XP_024309553.1:p.Leu439Val
XR_001740287.1:n.1837C>G (TSEN2)
XR_001740288.2:n.1837C>G (TSEN2)
XR_001740289.2:n.1780C>G (TSEN2)
XR_001740290.2:n.1394C>G (TSEN2)
XR_001740291.1:n.1702C>G (TSEN2)
XR_001740292.1:n.1800C>G (TSEN2)
XR_001740293.1:n.1800C>G (TSEN2)
XR_001740294.2:n.1435C>G (TSEN2)
XR_001740295.2:n.1357C>G (TSEN2)
XR_001740296.1:n.1647C>G (TSEN2)
XR_001740297.1:n.1965C>G (TSEN2)
XR_001740298.2:n.1282C>G (TSEN2)
XR_001740300.2:n.1600C>G (TSEN2)
XR_001740301.2:n.1600C>G (TSEN2)
XR_001740302.2:n.1563C>G (TSEN2)
XR_001740303.2:n.1410C>G (TSEN2)
XR_001740304.1:n.1718C>G (TSEN2)
XR_002959592.1:n.1571C>G (TSEN2)
XR_002959593.1:n.1528C>G (TSEN2)
XR_002959594.1:n.1568C>G (TSEN2)
XR_002959595.1:n.1908C>G (TSEN2)
XR_427296.2:n.1282C>G (TSEN2)
NM_001321278.2:c.1338+1057C>G (TSEN2) NP_001308207.1:n.1338+1057C>G
NM_025265.4:c.1393C>G (TSEN2) MANE Select NP_079541.1:p.Leu465Val
NR_135607.2:n.1448C>G (TSEN2)
NM_001145392.2:c.1393C>G (TSEN2) NP_001138864.1:p.Leu465Val
NM_001145393.3:c.1315C>G (TSEN2) NP_001138865.1:p.Leu439Val
NM_001145394.2:c.1216C>G (TSEN2) NP_001138866.1:p.Leu406Val
NM_001321277.2:c.1393C>G (TSEN2) NP_001308206.1:p.Leu465Val
NM_001321279.2:c.1315C>G (TSEN2) NP_001308208.1:p.Leu439Val
Search 100 bp 5'
Search 100 bp 3'