Canonical Allele Identifier: CA16617492
Gene: TRIP12 HGNC NCBI

Linked Data

ClinVar Variation Id: 424206
ClinVar RCV Id: RCV000482024
dbSNP Id: rs1064796861
MyVariant Identifiers: chr2:g.230652219A>G (hg19) chr2:g.229787503A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.229787503A>G , CM000664.2:g.229787503A>G GRCh38
NC_000002.11:g.230652219A>G , CM000664.1:g.230652219A>G GRCh37
NC_000002.10:g.230360463A>G NCBI36
NG_053017.1:g.140732T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000430954.6:c.4818+2T>C ENSP00000389827.2:n.4818+2T>C
ENST00000453485.2:c.4827+2T>C ENSP00000400967.2:n.4827+2T>C
ENST00000704577.1:c.4995+2T>C ENSP00000515952.1:n.4995+2T>C
ENST00000704578.1:c.4854+2T>C ENSP00000515953.1:n.4854+2T>C
ENST00000704579.1:c.*3159+2T>C ENSP00000515954.1:n.*3159+2T>C
ENST00000704580.1:c.4869+2T>C ENSP00000515955.1:n.4869+2T>C
ENST00000704581.1:c.4983+2T>C ENSP00000515956.1:n.4983+2T>C
ENST00000704582.1:c.649+2T>C
ENST00000704583.1:c.*2479+2T>C ENSP00000515958.1:n.*2479+2T>C
ENST00000704584.1:c.4718+2T>C
ENST00000704585.1:c.4773+2T>C ENSP00000515960.1:n.4773+2T>C
ENST00000675423.1:c.4995+2T>C ENSP00000502768.1:n.4995+2T>C
ENST00000675453.1:c.4998+2T>C ENSP00000502271.1:n.4998+2T>C
ENST00000675903.1:c.4995+2T>C MANE Select ENSP00000502713.1:n.4995+2T>C
ENST00000283943.9:c.4770+2T>C ENSP00000283943.4:n.4770+2T>C
ENST00000389044.8:c.4914+2T>C ENSP00000373696.4:n.4914+2T>C
ENST00000389045.7:c.3960+2T>C ENSP00000373697.3:n.3960+2T>C
NM_001284214.1:c.4914+2T>C NP_001271143.1:n.4914+2T>C
NM_001284215.1:c.4869+2T>C NP_001271144.1:n.4869+2T>C
NM_001284216.1:c.3960+2T>C NP_001271145.1:n.3960+2T>C
NM_004238.2:c.4770+2T>C NP_004229.1:n.4770+2T>C
XM_005246954.3:c.4998+2T>C XP_005247011.1:n.4998+2T>C
XM_005246955.3:c.4998+2T>C XP_005247012.1:n.4998+2T>C
XM_005246956.3:c.4995+2T>C XP_005247013.1:n.4995+2T>C
XM_005246957.3:c.4983+2T>C XP_005247014.1:n.4983+2T>C
XM_005246958.3:c.4917+2T>C XP_005247015.1:n.4917+2T>C
XM_005246960.3:c.4911+2T>C XP_005247017.1:n.4911+2T>C
XM_005246961.2:c.4872+2T>C XP_005247018.1:n.4872+2T>C
XM_005246962.3:c.4869+2T>C XP_005247019.1:n.4869+2T>C
XM_005246963.3:c.4998+2T>C XP_005247020.1:n.4998+2T>C
XM_006712852.2:c.4872+2T>C XP_006712915.1:n.4872+2T>C
XM_006712853.2:c.4788+2T>C XP_006712916.1:n.4788+2T>C
XM_011512180.1:c.4998+2T>C XP_011510482.1:n.4998+2T>C
XM_011512181.1:c.4998+2T>C XP_011510483.1:n.4998+2T>C
XM_011512182.1:c.4998+2T>C XP_011510484.1:n.4998+2T>C
XM_011512183.1:c.4872+2T>C XP_011510485.1:n.4872+2T>C
XM_011512184.1:c.4998+2T>C XP_011510486.1:n.4998+2T>C
NM_001284215.2:c.4869+2T>C NP_001271144.1:n.4869+2T>C
NM_001348315.1:c.4914+2T>C NP_001335244.1:n.4914+2T>C
NM_001348316.1:c.4869+2T>C NP_001335245.1:n.4869+2T>C
NM_001348317.1:c.4854+2T>C NP_001335246.1:n.4854+2T>C
NM_001348318.1:c.4854+2T>C NP_001335247.1:n.4854+2T>C
NM_001348319.1:c.4980+2T>C NP_001335248.1:n.4980+2T>C
NM_001348320.1:c.4980+2T>C NP_001335249.1:n.4980+2T>C
NM_001348321.1:c.4983+2T>C NP_001335250.1:n.4983+2T>C
NM_001348322.1:c.4995+2T>C NP_001335251.1:n.4995+2T>C
NM_001348323.1:c.4995+2T>C NP_001335252.1:n.4995+2T>C
NM_001348324.1:c.4995+2T>C NP_001335253.1:n.4995+2T>C
NM_001348325.1:c.4995+2T>C NP_001335254.1:n.4995+2T>C
NM_001348326.1:c.4995+2T>C NP_001335255.1:n.4995+2T>C
NM_001348327.1:c.4995+2T>C NP_001335256.1:n.4995+2T>C
NM_001348328.1:c.4998+2T>C NP_001335257.1:n.4998+2T>C
NM_001348329.1:c.4998+2T>C NP_001335258.1:n.4998+2T>C
NM_001348330.1:c.4998+2T>C NP_001335259.1:n.4998+2T>C
NM_001348331.1:c.4773+2T>C NP_001335260.1:n.4773+2T>C
NM_001348332.1:c.4893+2T>C NP_001335261.1:n.4893+2T>C
NM_001348333.1:c.4917+2T>C NP_001335262.1:n.4917+2T>C
XM_005246961.4:c.4872+2T>C XP_005247018.1:n.4872+2T>C
XM_017005283.2:c.4899+2T>C XP_016860772.1:n.4899+2T>C
XM_017005289.2:c.4830+2T>C XP_016860778.1:n.4830+2T>C
XM_017005290.2:c.4827+2T>C XP_016860779.1:n.4827+2T>C
XM_024453223.1:c.5070+2T>C XP_024308991.1:n.5070+2T>C
XM_024453224.1:c.5070+2T>C XP_024308992.1:n.5070+2T>C
XM_024453225.1:c.5070+2T>C XP_024308993.1:n.5070+2T>C
XM_024453226.1:c.5070+2T>C XP_024308994.1:n.5070+2T>C
XM_024453227.1:c.5070+2T>C XP_024308995.1:n.5070+2T>C
XM_024453228.1:c.5070+2T>C XP_024308996.1:n.5070+2T>C
XM_024453229.1:c.5067+2T>C XP_024308997.1:n.5067+2T>C
XM_024453230.1:c.5067+2T>C XP_024308998.1:n.5067+2T>C
XM_024453231.1:c.4989+2T>C XP_024308999.1:n.4989+2T>C
XM_024453232.1:c.4986+2T>C XP_024309000.1:n.4986+2T>C
XM_024453233.1:c.4983+2T>C XP_024309001.1:n.4983+2T>C
XM_024453234.1:c.4983+2T>C XP_024309002.1:n.4983+2T>C
XM_024453235.1:c.4983+2T>C XP_024309003.1:n.4983+2T>C
XM_024453236.1:c.4944+2T>C XP_024309004.1:n.4944+2T>C
XM_024453237.1:c.4944+2T>C XP_024309005.1:n.4944+2T>C
XM_024453238.1:c.4944+2T>C XP_024309006.1:n.4944+2T>C
XM_024453239.1:c.4944+2T>C XP_024309007.1:n.4944+2T>C
XM_024453240.1:c.4944+2T>C XP_024309008.1:n.4944+2T>C
XM_024453241.1:c.4941+2T>C XP_024309009.1:n.4941+2T>C
XM_024453242.1:c.4857+2T>C XP_024309010.1:n.4857+2T>C
XM_024453243.1:c.4788+2T>C XP_024309011.1:n.4788+2T>C
NM_001284214.2:c.4914+2T>C NP_001271143.1:n.4914+2T>C
NM_001284216.2:c.3960+2T>C NP_001271145.1:n.3960+2T>C
NM_001348315.2:c.4914+2T>C NP_001335244.1:n.4914+2T>C
NM_001348316.2:c.4869+2T>C NP_001335245.1:n.4869+2T>C
NM_001348318.2:c.4854+2T>C NP_001335247.1:n.4854+2T>C
NM_001348320.2:c.4980+2T>C NP_001335249.1:n.4980+2T>C
NM_001348323.2:c.4995+2T>C NP_001335252.1:n.4995+2T>C
NM_001348324.2:c.4995+2T>C NP_001335253.1:n.4995+2T>C
NM_001348325.2:c.4995+2T>C NP_001335254.1:n.4995+2T>C
NM_001348326.2:c.4995+2T>C NP_001335255.1:n.4995+2T>C
NM_001348327.2:c.4995+2T>C NP_001335256.1:n.4995+2T>C
NM_001348329.2:c.4998+2T>C NP_001335258.1:n.4998+2T>C
NM_001348330.2:c.4998+2T>C NP_001335259.1:n.4998+2T>C
NM_004238.3:c.4770+2T>C NP_004229.1:n.4770+2T>C
NM_001348323.3:c.4995+2T>C MANE Select NP_001335252.1:n.4995+2T>C
Search 100 bp 5'
Search 100 bp 3'