Canonical Allele Identifier: CA351478590
Gene: TSEN2 HGNC NCBI
MKRN2OS HGNC NCBI

Linked Data

dbSNP Id: rs75288720
gnomAD v4: 3-12532712-C-G
MyVariant Identifiers: chr3:g.12574211C>G (hg19) chr3:g.12532712C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12532712C>G , CM000665.2:g.12532712C>G GRCh38
NC_000003.11:g.12574211C>G , CM000665.1:g.12574211C>G GRCh37
NC_000003.10:g.12549211C>G NCBI36
NG_011521.1:g.53281C>G
NG_011521.2:g.53281C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000284995.11:c.1389C>G (TSEN2) MANE Select ENSP00000284995.6:p.Asp463Glu
ENST00000412698.3:c.1260+1053C>G (TSEN2) ENSP00000408528.3:n.1260+1053C>G
ENST00000415684.6:c.1311C>G (TSEN2) ENSP00000416510.1:p.Asp437Glu
ENST00000444864.6:c.1260+1053C>G (TSEN2) ENSP00000407974.2:n.1260+1053C>G
ENST00000446004.6:c.1338+1053C>G (TSEN2) ENSP00000406238.2:n.1338+1053C>G
ENST00000455118.6:c.*230C>G (TSEN2) ENSP00000408744.2:n.*230C>G
ENST00000475595.2:n.4072C>G (TSEN2)
ENST00000679367.1:c.*1008C>G (TSEN2) ENSP00000506510.1:n.*1008C>G
ENST00000679420.1:n.1562C>G (TSEN2)
ENST00000679424.1:c.*1232C>G (TSEN2) ENSP00000505917.1:n.*1232C>G
ENST00000679425.1:c.1389C>G (TSEN2) ENSP00000505890.1:p.Asp463Glu
ENST00000679492.1:c.1338+1053C>G (TSEN2) ENSP00000505331.1:n.1338+1053C>G
ENST00000679555.1:c.*1112C>G (TSEN2) ENSP00000505538.1:n.*1112C>G
ENST00000679670.1:c.1311C>G (TSEN2) ENSP00000506080.1:p.Asp437Glu
ENST00000679690.1:c.*388C>G (TSEN2) ENSP00000506383.1:n.*388C>G
ENST00000679693.1:c.*175+1053C>G (TSEN2) ENSP00000505108.1:n.*175+1053C>G
ENST00000679699.1:c.1389C>G (TSEN2) ENSP00000505274.1:p.Asp463Glu
ENST00000679756.1:c.1338C>G (TSEN2) ENSP00000506391.1:p.Asp446Glu
ENST00000679785.1:c.*230C>G (TSEN2) ENSP00000506473.1:n.*230C>G
ENST00000679835.1:c.*578C>G (TSEN2) ENSP00000505616.1:n.*578C>G
ENST00000679876.1:c.1209+1053C>G (TSEN2) ENSP00000504930.1:n.1209+1053C>G
ENST00000679995.1:c.*230C>G (TSEN2) ENSP00000505221.1:n.*230C>G
ENST00000680126.1:c.*1228C>G (TSEN2) ENSP00000505345.1:n.*1228C>G
ENST00000680264.1:c.*527+1053C>G (TSEN2) ENSP00000505273.1:n.*527+1053C>G
ENST00000680275.1:c.1446C>G (TSEN2) ENSP00000505417.1:p.Asp482Glu
ENST00000680354.1:c.1368C>G (TSEN2) ENSP00000505106.1:p.Asp456Glu
ENST00000680376.1:c.*578C>G (TSEN2) ENSP00000506369.1:n.*578C>G
ENST00000680421.1:c.1260C>G (TSEN2) ENSP00000505530.1:p.Asp420Glu
ENST00000680449.1:c.*531C>G (TSEN2) ENSP00000505709.1:n.*531C>G
ENST00000680458.1:c.*204C>G (TSEN2) ENSP00000505979.1:n.*204C>G
ENST00000680555.1:c.*230C>G (TSEN2) ENSP00000505160.1:n.*230C>G
ENST00000680598.1:c.1338C>G (TSEN2) ENSP00000506297.1:p.Asp446Glu
ENST00000680765.1:c.*230C>G (TSEN2) ENSP00000505351.1:n.*230C>G
ENST00000680817.1:c.1260C>G (TSEN2) ENSP00000506221.1:p.Asp420Glu
ENST00000680857.1:c.1338+1053C>G (TSEN2) ENSP00000506578.1:n.1338+1053C>G
ENST00000680873.1:c.*541C>G (TSEN2) ENSP00000505233.1:n.*541C>G
ENST00000680923.1:c.*578C>G (TSEN2) ENSP00000505344.1:n.*578C>G
ENST00000680943.1:c.1338C>G (TSEN2) ENSP00000505442.1:p.Asp446Glu
ENST00000680986.1:c.1389C>G (TSEN2) ENSP00000505799.1:p.Asp463Glu
ENST00000681042.1:c.1100-6449C>G (TSEN2) ENSP00000505622.1:n.1100-6449C>G
ENST00000681073.1:c.*230C>G (TSEN2) ENSP00000506576.1:n.*230C>G
ENST00000681140.1:c.1389C>G (TSEN2) ENSP00000505099.1:p.Asp463Glu
ENST00000681227.1:c.*261C>G (TSEN2) ENSP00000505240.1:n.*261C>G
ENST00000681268.1:c.*1533C>G (TSEN2) ENSP00000505385.1:n.*1533C>G
ENST00000681343.1:c.*1008C>G (TSEN2) ENSP00000506265.1:n.*1008C>G
ENST00000681433.1:c.*230C>G (TSEN2) ENSP00000505729.1:n.*230C>G
ENST00000681471.1:c.1311C>G (TSEN2) ENSP00000505105.1:p.Asp437Glu
ENST00000681482.1:c.1389C>G (TSEN2) ENSP00000505436.1:p.Asp463Glu
ENST00000681676.1:c.1311C>G (TSEN2) ENSP00000506163.1:p.Asp437Glu
ENST00000681713.1:c.*1008C>G (TSEN2) ENSP00000506046.1:n.*1008C>G
ENST00000284995.10:c.1389C>G (TSEN2) ENSP00000284995.6:p.Asp463Glu
ENST00000402228.7:c.1389C>G (TSEN2) ENSP00000385976.3:p.Asp463Glu
ENST00000412698.2:c.93+1053C>G (TSEN2) ENSP00000408528.2:n.93+1053C>G
ENST00000415684.5:c.1311C>G (TSEN2) ENSP00000416510.1:p.Asp437Glu
ENST00000454502.6:c.1212C>G (TSEN2) ENSP00000392029.2:p.Asp404Glu
ENST00000455118.5:c.236C>G (TSEN2)
ENST00000473755.5:n.3394C>G (TSEN2)
ENST00000475595.1:n.235C>G (TSEN2)
ENST00000567514.1:n.715+6795G>C (MKRN2OS)
NM_001145392.1:c.1389C>G (TSEN2) NP_001138864.1:p.Asp463Glu
NM_001145393.1:c.1311C>G (TSEN2) NP_001138865.1:p.Asp437Glu
NM_001145394.1:c.1212C>G (TSEN2) NP_001138866.1:p.Asp404Glu
NM_025265.3:c.1389C>G (TSEN2) NP_079541.1:p.Asp463Glu
XM_005265495.1:c.1389C>G (TSEN2) XP_005265552.1:p.Asp463Glu
XM_005265497.1:c.1311C>G (TSEN2) XP_005265554.1:p.Asp437Glu
XM_005265498.1:c.1260C>G (TSEN2) XP_005265555.1:p.Asp420Glu
XM_011534138.1:c.1122C>G (TSEN2) XP_011532440.1:p.Asp374Glu
XM_011534139.1:c.1116C>G (TSEN2) XP_011532441.1:p.Asp372Glu
XR_245158.1:n.1492C>G (TSEN2)
XR_245159.3:n.1492C>G (TSEN2)
XR_427295.2:n.3394C>G (TSEN2)
XR_427296.1:n.1302C>G (TSEN2)
NM_001145393.2:c.1311C>G (TSEN2) NP_001138865.1:p.Asp437Glu
NM_001321277.1:c.1389C>G (TSEN2) NP_001308206.1:p.Asp463Glu
NM_001321278.1:c.1338+1053C>G (TSEN2) NP_001308207.1:n.1338+1053C>G
NM_001321279.1:c.1311C>G (TSEN2) NP_001308208.1:p.Asp437Glu
NR_135607.1:n.1492C>G (TSEN2)
XM_011534139.3:c.1116C>G (TSEN2) XP_011532441.1:p.Asp372Glu
XM_017007292.1:c.1446C>G (TSEN2) XP_016862781.1:p.Asp482Glu
XM_017007293.1:c.1446C>G (TSEN2) XP_016862782.1:p.Asp482Glu
XM_017007294.1:c.1446C>G (TSEN2) XP_016862783.1:p.Asp482Glu
XM_017007295.2:c.1446C>G (TSEN2) XP_016862784.1:p.Asp482Glu
XM_017007296.2:c.1389C>G (TSEN2) XP_016862785.1:p.Asp463Glu
XM_017007297.1:c.1368C>G (TSEN2) XP_016862786.1:p.Asp456Glu
XM_024453785.1:c.1311C>G (TSEN2) XP_024309553.1:p.Asp437Glu
XR_001740287.1:n.1833C>G (TSEN2)
XR_001740288.2:n.1833C>G (TSEN2)
XR_001740289.2:n.1776C>G (TSEN2)
XR_001740290.2:n.1390C>G (TSEN2)
XR_001740291.1:n.1698C>G (TSEN2)
XR_001740292.1:n.1796C>G (TSEN2)
XR_001740293.1:n.1796C>G (TSEN2)
XR_001740294.2:n.1431C>G (TSEN2)
XR_001740295.2:n.1353C>G (TSEN2)
XR_001740296.1:n.1643C>G (TSEN2)
XR_001740297.1:n.1961C>G (TSEN2)
XR_001740298.2:n.1278C>G (TSEN2)
XR_001740300.2:n.1596C>G (TSEN2)
XR_001740301.2:n.1596C>G (TSEN2)
XR_001740302.2:n.1559C>G (TSEN2)
XR_001740303.2:n.1406C>G (TSEN2)
XR_001740304.1:n.1714C>G (TSEN2)
XR_002959592.1:n.1567C>G (TSEN2)
XR_002959593.1:n.1524C>G (TSEN2)
XR_002959594.1:n.1564C>G (TSEN2)
XR_002959595.1:n.1904C>G (TSEN2)
XR_427296.2:n.1278C>G (TSEN2)
NM_001321278.2:c.1338+1053C>G (TSEN2) NP_001308207.1:n.1338+1053C>G
NM_025265.4:c.1389C>G (TSEN2) MANE Select NP_079541.1:p.Asp463Glu
NR_135607.2:n.1444C>G (TSEN2)
NM_001145392.2:c.1389C>G (TSEN2) NP_001138864.1:p.Asp463Glu
NM_001145393.3:c.1311C>G (TSEN2) NP_001138865.1:p.Asp437Glu
NM_001145394.2:c.1212C>G (TSEN2) NP_001138866.1:p.Asp404Glu
NM_001321277.2:c.1389C>G (TSEN2) NP_001308206.1:p.Asp463Glu
NM_001321279.2:c.1311C>G (TSEN2) NP_001308208.1:p.Asp437Glu
Search 100 bp 5'
Search 100 bp 3'