Canonical Allele Identifier: CA2123848942

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2730584
• ClinVar RCV Id: RCV003530867
• dbSNP Id: rs2040543151

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240320_24240328dup , CM000676.2:g.24240320_24240328dup	GRCh38
NC_000014.8:g.24709526_24709534dup , CM000676.1:g.24709526_24709534dup	GRCh37
NC_000014.7:g.23779366_23779374dup	NCBI36
NG_016650.1:g.7353_7361dup
NG_054634.1:g.12904_12912dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1461_1469dup
ENST00000557921.3:c.*93_*101dup	ENSP00000453157.3:n.*93_*101dup
ENST00000699682.1:n.1548_1556dup
ENST00000699683.1:n.1598_1606dup
ENST00000699684.1:c.*751_*759dup	ENSP00000514523.1:n.*751_*759dup
ENST00000699685.1:n.1362_1370dup
ENST00000699686.1:c.*93_*101dup	ENSP00000514524.1:n.*93_*101dup
ENST00000699687.1:c.*93_*101dup	ENSP00000514525.1:n.*93_*101dup
ENST00000699688.1:n.1358_1366dup
ENST00000699689.1:n.1714_1722dup
ENST00000699690.1:n.1911_1919dup
ENST00000699691.1:n.2055_2063dup
ENST00000699692.1:n.9_17dup
ENST00000699693.1:n.1487_1495dup
ENST00000699694.1:n.1817_1825dup
ENST00000699695.1:c.*442_*450dup	ENSP00000514526.1:n.*442_*450dup
ENST00000699696.1:n.1461_1469dup
ENST00000699697.1:c.1070_1078dup	ENSP00000514527.1:p.Cys359_Tyr360insLeuAspCys
ENST00000699698.1:n.991_999dup
ENST00000699699.1:n.1482_1490dup
ENST00000699700.1:n.1605_1613dup
ENST00000699701.1:c.*538_*546dup	ENSP00000514528.1:n.*538_*546dup
ENST00000267415.12:c.1070_1078dup MANE Select	ENSP00000267415.7:p.Cys359_Tyr360insLeuAspCys
ENST00000646753.1:c.965_973dup	ENSP00000494065.1:p.Cys324_Tyr325insLeuAspCys
ENST00000267415.11:c.1070_1078dup	ENSP00000267415.7:p.Cys359_Tyr360insLeuAspCys
ENST00000399423.8:c.*93_*101dup	ENSP00000382350.4:n.*93_*101dup
ENST00000557915.1:n.277_285dup
ENST00000558566.1:c.*530_*538dup	ENSP00000453025.1:n.*530_*538dup
ENST00000559969.5:c.916_924dup
ENST00000560019.5:c.65_73dup	ENSP00000453113.1:p.Cys24_Tyr25insLeuAspCys
ENST00000626689.2:c.*442_*450dup	ENSP00000486681.1:n.*442_*450dup
NM_001099274.1:c.1070_1078dup	NP_001092744.1:p.Cys359_Tyr360insLeuAspCys
NM_012461.2:c.*93_*101dup	NP_036593.2:n.*93_*101dup
XM_005267528.2:c.1070_1078dup	XP_005267585.1:p.Cys359_Tyr360insLeuAspCys
XM_005267529.2:c.965_973dup	XP_005267586.1:p.Cys324_Tyr325insLeuAspCys
NM_001099274.2:c.1070_1078dup	NP_001092744.1:p.Cys359_Tyr360insLeuAspCys
NM_001363668.1:c.965_973dup	NP_001350597.1:p.Cys324_Tyr325insLeuAspCys
NM_012461.3:c.*93_*101dup	NP_036593.2:n.*93_*101dup
XM_011536642.2:c.*538_*546dup	XP_011534944.1:n.*538_*546dup
XM_017021216.2:c.428_436dup	XP_016876705.1:p.Cys145_Tyr146insLeuAspCys
XM_017021217.1:c.428_436dup	XP_016876706.1:p.Cys145_Tyr146insLeuAspCys
NM_001099274.3:c.1070_1078dup MANE Select	NP_001092744.1:p.Cys359_Tyr360insLeuAspCys
NM_001363668.2:c.965_973dup	NP_001350597.1:p.Cys324_Tyr325insLeuAspCys