Canonical Allele Identifier: CA2258845

Gene: TSEN2 MKRN2OS

Linked Data

• ClinVar Variation Id: 1514173
• ClinVar RCV Id: RCV002026545
• dbSNP Id: rs773082232
• ExAC: 3:12574177 G / A
• gnomAD v2: 3-12574177-G-A
• gnomAD v4: 3-12532678-G-A
• MyVariant Identifiers: chr3:g.12574177G>A (hg19) ; chr3:g.12532678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.12532678G>A , CM000665.2:g.12532678G>A	GRCh38
NC_000003.11:g.12574177G>A , CM000665.1:g.12574177G>A	GRCh37
NC_000003.10:g.12549177G>A	NCBI36
NG_011521.1:g.53247G>A
NG_011521.2:g.53247G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284995.11:c.1355G>A (TSEN2) MANE Select	ENSP00000284995.6:p.Arg452Gln
ENST00000412698.3:c.1260+1019G>A (TSEN2)	ENSP00000408528.3:n.1260+1019G>A
ENST00000415684.6:c.1277G>A (TSEN2)	ENSP00000416510.1:p.Arg426Gln
ENST00000444864.6:c.1260+1019G>A (TSEN2)	ENSP00000407974.2:n.1260+1019G>A
ENST00000446004.6:c.1338+1019G>A (TSEN2)	ENSP00000406238.2:n.1338+1019G>A
ENST00000455118.6:c.*196G>A (TSEN2)	ENSP00000408744.2:n.*196G>A
ENST00000475595.2:n.4038G>A (TSEN2)
ENST00000679367.1:c.*974G>A (TSEN2)	ENSP00000506510.1:n.*974G>A
ENST00000679420.1:n.1528G>A (TSEN2)
ENST00000679424.1:c.*1198G>A (TSEN2)	ENSP00000505917.1:n.*1198G>A
ENST00000679425.1:c.1355G>A (TSEN2)	ENSP00000505890.1:p.Arg452Gln
ENST00000679492.1:c.1338+1019G>A (TSEN2)	ENSP00000505331.1:n.1338+1019G>A
ENST00000679555.1:c.*1078G>A (TSEN2)	ENSP00000505538.1:n.*1078G>A
ENST00000679670.1:c.1277G>A (TSEN2)	ENSP00000506080.1:p.Arg426Gln
ENST00000679690.1:c.*354G>A (TSEN2)	ENSP00000506383.1:n.*354G>A
ENST00000679693.1:c.*175+1019G>A (TSEN2)	ENSP00000505108.1:n.*175+1019G>A
ENST00000679699.1:c.1355G>A (TSEN2)	ENSP00000505274.1:p.Arg452Gln
ENST00000679756.1:c.1304G>A (TSEN2)	ENSP00000506391.1:p.Arg435Gln
ENST00000679785.1:c.*196G>A (TSEN2)	ENSP00000506473.1:n.*196G>A
ENST00000679835.1:c.*544G>A (TSEN2)	ENSP00000505616.1:n.*544G>A
ENST00000679876.1:c.1209+1019G>A (TSEN2)	ENSP00000504930.1:n.1209+1019G>A
ENST00000679995.1:c.*196G>A (TSEN2)	ENSP00000505221.1:n.*196G>A
ENST00000680126.1:c.*1194G>A (TSEN2)	ENSP00000505345.1:n.*1194G>A
ENST00000680264.1:c.*527+1019G>A (TSEN2)	ENSP00000505273.1:n.*527+1019G>A
ENST00000680275.1:c.1412G>A (TSEN2)	ENSP00000505417.1:p.Arg471Gln
ENST00000680354.1:c.1334G>A (TSEN2)	ENSP00000505106.1:p.Arg445Gln
ENST00000680376.1:c.*544G>A (TSEN2)	ENSP00000506369.1:n.*544G>A
ENST00000680421.1:c.1226G>A (TSEN2)	ENSP00000505530.1:p.Arg409Gln
ENST00000680449.1:c.*497G>A (TSEN2)	ENSP00000505709.1:n.*497G>A
ENST00000680458.1:c.*170G>A (TSEN2)	ENSP00000505979.1:n.*170G>A
ENST00000680555.1:c.*196G>A (TSEN2)	ENSP00000505160.1:n.*196G>A
ENST00000680598.1:c.1304G>A (TSEN2)	ENSP00000506297.1:p.Arg435Gln
ENST00000680765.1:c.*196G>A (TSEN2)	ENSP00000505351.1:n.*196G>A
ENST00000680817.1:c.1226G>A (TSEN2)	ENSP00000506221.1:p.Arg409Gln
ENST00000680857.1:c.1338+1019G>A (TSEN2)	ENSP00000506578.1:n.1338+1019G>A
ENST00000680873.1:c.*507G>A (TSEN2)	ENSP00000505233.1:n.*507G>A
ENST00000680923.1:c.*544G>A (TSEN2)	ENSP00000505344.1:n.*544G>A
ENST00000680943.1:c.1304G>A (TSEN2)	ENSP00000505442.1:p.Arg435Gln
ENST00000680986.1:c.1355G>A (TSEN2)	ENSP00000505799.1:p.Arg452Gln
ENST00000681042.1:c.1100-6483G>A (TSEN2)	ENSP00000505622.1:n.1100-6483G>A
ENST00000681073.1:c.*196G>A (TSEN2)	ENSP00000506576.1:n.*196G>A
ENST00000681140.1:c.1355G>A (TSEN2)	ENSP00000505099.1:p.Arg452Gln
ENST00000681227.1:c.*227G>A (TSEN2)	ENSP00000505240.1:n.*227G>A
ENST00000681268.1:c.*1499G>A (TSEN2)	ENSP00000505385.1:n.*1499G>A
ENST00000681343.1:c.*974G>A (TSEN2)	ENSP00000506265.1:n.*974G>A
ENST00000681433.1:c.*196G>A (TSEN2)	ENSP00000505729.1:n.*196G>A
ENST00000681471.1:c.1277G>A (TSEN2)	ENSP00000505105.1:p.Arg426Gln
ENST00000681482.1:c.1355G>A (TSEN2)	ENSP00000505436.1:p.Arg452Gln
ENST00000681676.1:c.1277G>A (TSEN2)	ENSP00000506163.1:p.Arg426Gln
ENST00000681713.1:c.*974G>A (TSEN2)	ENSP00000506046.1:n.*974G>A
ENST00000284995.10:c.1355G>A (TSEN2)	ENSP00000284995.6:p.Arg452Gln
ENST00000402228.7:c.1355G>A (TSEN2)	ENSP00000385976.3:p.Arg452Gln
ENST00000412698.2:c.93+1019G>A (TSEN2)	ENSP00000408528.2:n.93+1019G>A
ENST00000415684.5:c.1277G>A (TSEN2)	ENSP00000416510.1:p.Arg426Gln
ENST00000454502.6:c.1178G>A (TSEN2)	ENSP00000392029.2:p.Arg393Gln
ENST00000455118.5:c.202G>A (TSEN2)
ENST00000473755.5:n.3360G>A (TSEN2)
ENST00000475595.1:n.201G>A (TSEN2)
ENST00000567514.1:n.715+6829C>T (MKRN2OS)
NM_001145392.1:c.1355G>A (TSEN2)	NP_001138864.1:p.Arg452Gln
NM_001145393.1:c.1277G>A (TSEN2)	NP_001138865.1:p.Arg426Gln
NM_001145394.1:c.1178G>A (TSEN2)	NP_001138866.1:p.Arg393Gln
NM_025265.3:c.1355G>A (TSEN2)	NP_079541.1:p.Arg452Gln
XM_005265495.1:c.1355G>A (TSEN2)	XP_005265552.1:p.Arg452Gln
XM_005265497.1:c.1277G>A (TSEN2)	XP_005265554.1:p.Arg426Gln
XM_005265498.1:c.1226G>A (TSEN2)	XP_005265555.1:p.Arg409Gln
XM_011534138.1:c.1088G>A (TSEN2)	XP_011532440.1:p.Arg363Gln
XM_011534139.1:c.1082G>A (TSEN2)	XP_011532441.1:p.Arg361Gln
XR_245158.1:n.1458G>A (TSEN2)
XR_245159.3:n.1458G>A (TSEN2)
XR_427295.2:n.3360G>A (TSEN2)
XR_427296.1:n.1268G>A (TSEN2)
NM_001145393.2:c.1277G>A (TSEN2)	NP_001138865.1:p.Arg426Gln
NM_001321277.1:c.1355G>A (TSEN2)	NP_001308206.1:p.Arg452Gln
NM_001321278.1:c.1338+1019G>A (TSEN2)	NP_001308207.1:n.1338+1019G>A
NM_001321279.1:c.1277G>A (TSEN2)	NP_001308208.1:p.Arg426Gln
NR_135607.1:n.1458G>A (TSEN2)
XM_011534139.3:c.1082G>A (TSEN2)	XP_011532441.1:p.Arg361Gln
XM_017007292.1:c.1412G>A (TSEN2)	XP_016862781.1:p.Arg471Gln
XM_017007293.1:c.1412G>A (TSEN2)	XP_016862782.1:p.Arg471Gln
XM_017007294.1:c.1412G>A (TSEN2)	XP_016862783.1:p.Arg471Gln
XM_017007295.2:c.1412G>A (TSEN2)	XP_016862784.1:p.Arg471Gln
XM_017007296.2:c.1355G>A (TSEN2)	XP_016862785.1:p.Arg452Gln
XM_017007297.1:c.1334G>A (TSEN2)	XP_016862786.1:p.Arg445Gln
XM_024453785.1:c.1277G>A (TSEN2)	XP_024309553.1:p.Arg426Gln
XR_001740287.1:n.1799G>A (TSEN2)
XR_001740288.2:n.1799G>A (TSEN2)
XR_001740289.2:n.1742G>A (TSEN2)
XR_001740290.2:n.1356G>A (TSEN2)
XR_001740291.1:n.1664G>A (TSEN2)
XR_001740292.1:n.1762G>A (TSEN2)
XR_001740293.1:n.1762G>A (TSEN2)
XR_001740294.2:n.1397G>A (TSEN2)
XR_001740295.2:n.1319G>A (TSEN2)
XR_001740296.1:n.1609G>A (TSEN2)
XR_001740297.1:n.1927G>A (TSEN2)
XR_001740298.2:n.1244G>A (TSEN2)
XR_001740300.2:n.1562G>A (TSEN2)
XR_001740301.2:n.1562G>A (TSEN2)
XR_001740302.2:n.1525G>A (TSEN2)
XR_001740303.2:n.1372G>A (TSEN2)
XR_001740304.1:n.1680G>A (TSEN2)
XR_002959592.1:n.1533G>A (TSEN2)
XR_002959593.1:n.1490G>A (TSEN2)
XR_002959594.1:n.1530G>A (TSEN2)
XR_002959595.1:n.1870G>A (TSEN2)
XR_427296.2:n.1244G>A (TSEN2)
NM_001321278.2:c.1338+1019G>A (TSEN2)	NP_001308207.1:n.1338+1019G>A
NM_025265.4:c.1355G>A (TSEN2) MANE Select	NP_079541.1:p.Arg452Gln
NR_135607.2:n.1410G>A (TSEN2)
NM_001145392.2:c.1355G>A (TSEN2)	NP_001138864.1:p.Arg452Gln
NM_001145393.3:c.1277G>A (TSEN2)	NP_001138865.1:p.Arg426Gln
NM_001145394.2:c.1178G>A (TSEN2)	NP_001138866.1:p.Arg393Gln
NM_001321277.2:c.1355G>A (TSEN2)	NP_001308206.1:p.Arg452Gln
NM_001321279.2:c.1277G>A (TSEN2)	NP_001308208.1:p.Arg426Gln