Canonical Allele Identifier: CA10617067
Gene: TSEN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 343056
ClinVar RCV Id: RCV000315134
dbSNP Id: rs533687592
gnomAD v2: 3-12526175-G-A
gnomAD v3: 3-12484676-G-A
gnomAD v4: 3-12484676-G-A
MyVariant Identifiers: chr3:g.12526175G>A (hg19) chr3:g.12484676G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12484676G>A , CM000665.2:g.12484676G>A GRCh38
NC_000003.11:g.12526175G>A , CM000665.1:g.12526175G>A GRCh37
NC_000003.10:g.12501175G>A NCBI36
NG_011521.1:g.5245G>A
NG_011521.2:g.5245G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000284995.11:c.-222G>A MANE Select ENSP00000284995.6:n.-222G>A
ENST00000412698.3:c.-18+159G>A ENSP00000408528.3:n.-18+159G>A
ENST00000415684.6:c.-18+159G>A ENSP00000416510.1:n.-18+159G>A
ENST00000444864.6:c.-222G>A ENSP00000407974.2:n.-222G>A
ENST00000446004.6:c.-18+159G>A ENSP00000406238.2:n.-18+159G>A
ENST00000455118.6:c.-18+159G>A ENSP00000408744.2:n.-18+159G>A
ENST00000475595.2:n.83+159G>A
ENST00000490981.2:n.114G>A
ENST00000679367.1:c.-222G>A ENSP00000506510.1:n.-222G>A
ENST00000679424.1:c.-18+159G>A ENSP00000505917.1:n.-18+159G>A
ENST00000679425.1:c.-222G>A ENSP00000505890.1:n.-222G>A
ENST00000679492.1:c.-222G>A ENSP00000505331.1:n.-222G>A
ENST00000679537.1:n.83+159G>A
ENST00000679555.1:c.-222G>A ENSP00000505538.1:n.-222G>A
ENST00000679670.1:c.-18+159G>A ENSP00000506080.1:n.-18+159G>A
ENST00000679690.1:c.-222G>A ENSP00000506383.1:n.-222G>A
ENST00000679693.1:c.-222G>A ENSP00000505108.1:n.-222G>A
ENST00000679699.1:c.-18+159G>A ENSP00000505274.1:n.-18+159G>A
ENST00000679756.1:c.-18+159G>A ENSP00000506391.1:n.-18+159G>A
ENST00000679785.1:c.-222G>A ENSP00000506473.1:n.-222G>A
ENST00000679835.1:c.-222G>A ENSP00000505616.1:n.-222G>A
ENST00000679876.1:c.-222G>A ENSP00000504930.1:n.-222G>A
ENST00000679995.1:c.-1322+159G>A ENSP00000505221.1:n.-1322+159G>A
ENST00000680126.1:c.-18+159G>A ENSP00000505345.1:n.-18+159G>A
ENST00000680172.1:n.114G>A
ENST00000680264.1:c.-222G>A ENSP00000505273.1:n.-222G>A
ENST00000680275.1:c.-18+159G>A ENSP00000505417.1:n.-18+159G>A
ENST00000680376.1:c.-18+159G>A ENSP00000506369.1:n.-18+159G>A
ENST00000680419.1:n.114G>A
ENST00000680421.1:c.-222G>A ENSP00000505530.1:n.-222G>A
ENST00000680449.1:c.-222G>A ENSP00000505709.1:n.-222G>A
ENST00000680458.1:c.-18+159G>A ENSP00000505979.1:n.-18+159G>A
ENST00000680555.1:c.-222G>A ENSP00000505160.1:n.-222G>A
ENST00000680598.1:c.-222G>A ENSP00000506297.1:n.-222G>A
ENST00000680765.1:c.-18+159G>A ENSP00000505351.1:n.-18+159G>A
ENST00000680817.1:c.-18+159G>A ENSP00000506221.1:n.-18+159G>A
ENST00000680857.1:c.-18+48G>A ENSP00000506578.1:n.-18+48G>A
ENST00000680873.1:c.-18+159G>A ENSP00000505233.1:n.-18+159G>A
ENST00000680923.1:c.-18+159G>A ENSP00000505344.1:n.-18+159G>A
ENST00000680943.1:c.-222G>A ENSP00000505442.1:n.-222G>A
ENST00000680986.1:c.-533G>A ENSP00000505799.1:n.-533G>A
ENST00000681042.1:c.-222G>A ENSP00000505622.1:n.-222G>A
ENST00000681073.1:c.-18+159G>A ENSP00000506576.1:n.-18+159G>A
ENST00000681140.1:c.-222G>A ENSP00000505099.1:n.-222G>A
ENST00000681227.1:c.-222G>A ENSP00000505240.1:n.-222G>A
ENST00000681268.1:c.-222G>A ENSP00000505385.1:n.-222G>A
ENST00000681343.1:c.-18+159G>A ENSP00000506265.1:n.-18+159G>A
ENST00000681433.1:c.-18+159G>A ENSP00000505729.1:n.-18+159G>A
ENST00000681471.1:c.-222G>A ENSP00000505105.1:n.-222G>A
ENST00000681482.1:c.-18+159G>A ENSP00000505436.1:n.-18+159G>A
ENST00000681676.1:c.-222G>A ENSP00000506163.1:n.-222G>A
ENST00000681713.1:c.-18+159G>A ENSP00000506046.1:n.-18+159G>A
ENST00000284995.10:c.-222G>A ENSP00000284995.6:n.-222G>A
ENST00000402228.7:c.-18+48G>A ENSP00000385976.3:n.-18+48G>A
ENST00000444864.5:c.-222G>A ENSP00000407974.1:n.-222G>A
ENST00000446004.5:c.-18+159G>A ENSP00000406238.1:n.-18+159G>A
ENST00000454502.6:c.-18+159G>A ENSP00000392029.2:n.-18+159G>A
ENST00000473755.5:n.166G>A
NM_001145392.1:c.-18+48G>A NP_001138864.1:n.-18+48G>A
NM_001145393.1:c.-18+159G>A NP_001138865.1:n.-18+159G>A
NM_001145394.1:c.-18+159G>A NP_001138866.1:n.-18+159G>A
NM_001145395.1:c.-222G>A NP_001138867.1:n.-222G>A
NM_025265.3:c.-222G>A NP_079541.1:n.-222G>A
XM_005265495.1:c.-18+159G>A XP_005265552.1:n.-18+159G>A
XM_005265497.1:c.-222G>A XP_005265554.1:n.-222G>A
XM_005265498.1:c.-18+159G>A XP_005265555.1:n.-18+159G>A
XM_005265499.2:c.-18+159G>A XP_005265556.1:n.-18+159G>A
XM_011534140.1:c.-18+159G>A XP_011532442.1:n.-18+159G>A
XR_245158.1:n.86+159G>A
XR_245159.3:n.86+159G>A
XR_427295.2:n.166G>A
XR_427296.1:n.86+159G>A
XR_940503.1:n.86+159G>A
NM_001145393.2:c.-18+159G>A NP_001138865.1:n.-18+159G>A
NM_001321277.1:c.-18+159G>A NP_001308206.1:n.-18+159G>A
NM_001321278.1:c.-18+159G>A NP_001308207.1:n.-18+159G>A
NM_001321279.1:c.-222G>A NP_001308208.1:n.-222G>A
NR_135607.1:n.86+159G>A
XM_017007292.1:c.-18+159G>A XP_016862781.1:n.-18+159G>A
XM_017007293.1:c.-222G>A XP_016862782.1:n.-222G>A
XM_017007294.1:c.-18+48G>A XP_016862783.1:n.-18+48G>A
XM_017007296.2:c.-533G>A XP_016862785.1:n.-533G>A
XM_017007297.1:c.-222G>A XP_016862786.1:n.-222G>A
XM_024453784.1:c.-222G>A XP_024309552.1:n.-222G>A
XM_024453785.1:c.-18+48G>A XP_024309553.1:n.-18+48G>A
XR_001740287.1:n.166G>A
XR_001740288.2:n.166G>A
XR_001740289.2:n.166G>A
XR_001740290.2:n.62+159G>A
XR_001740291.1:n.166G>A
XR_001740292.1:n.166G>A
XR_001740293.1:n.166G>A
XR_001740294.2:n.62+159G>A
XR_001740295.2:n.62+159G>A
XR_001740296.1:n.166G>A
XR_001740297.1:n.166G>A
XR_001740298.2:n.62+159G>A
XR_001740300.2:n.62+159G>A
XR_001740301.2:n.62+159G>A
XR_001740302.2:n.62+159G>A
XR_001740303.2:n.62+159G>A
XR_001740304.1:n.166G>A
XR_002959592.1:n.104+48G>A
XR_002959593.1:n.118+48G>A
XR_002959594.1:n.62+159G>A
XR_002959595.1:n.166G>A
XR_427296.2:n.62+159G>A
NM_001321278.2:c.-18+159G>A NP_001308207.1:n.-18+159G>A
NM_025265.4:c.-222G>A MANE Select NP_079541.1:n.-222G>A
NR_135607.2:n.38+159G>A
NM_001145392.2:c.-18+48G>A NP_001138864.1:n.-18+48G>A
NM_001145393.3:c.-18+159G>A NP_001138865.1:n.-18+159G>A
NM_001145394.2:c.-18+159G>A NP_001138866.1:n.-18+159G>A
NM_001321277.2:c.-18+159G>A NP_001308206.1:n.-18+159G>A
NM_001321279.2:c.-222G>A NP_001308208.1:n.-222G>A
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