Canonical Allele Identifier: CA389229972

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240873A>G , CM000676.2:g.24240873A>G	GRCh38
NC_000014.8:g.24710079A>G , CM000676.1:g.24710079A>G	GRCh37
NC_000014.7:g.23779919A>G	NCBI36
NG_016650.1:g.6802T>C
NG_054634.1:g.13457A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.607T>C MANE Select	NP_001092744.1:p.Cys203Arg
ENST00000267415.12:c.607T>C MANE Select	ENSP00000267415.7:p.Cys203Arg
NM_001099274.1:c.607T>C	NP_001092744.1:p.Cys203Arg
NM_001099274.2:c.607T>C	NP_001092744.1:p.Cys203Arg
NM_001363668.1:c.502T>C	NP_001350597.1:p.Cys168Arg
NM_001363668.2:c.502T>C	NP_001350597.1:p.Cys168Arg
NM_012461.2:c.607T>C	NP_036593.2:p.Cys203Arg
NM_012461.3:c.607T>C	NP_036593.2:p.Cys203Arg
ENST00000267415.11:c.607T>C	ENSP00000267415.7:p.Cys203Arg
ENST00000399423.8:c.607T>C	ENSP00000382350.4:p.Cys203Arg
ENST00000557915.2:n.910T>C
ENST00000557921.2:c.499T>C	ENSP00000453157.2:p.Cys167Arg
ENST00000557921.3:c.499T>C	ENSP00000453157.3:p.Cys167Arg
ENST00000558476.5:c.169T>C	ENSP00000452724.1:p.Cys57Arg
ENST00000558566.1:c.402T>C	ENSP00000453025.1:p.Ser134=
ENST00000559019.1:c.195T>C	ENSP00000453675.1:p.Ser65=
ENST00000559549.1:n.333T>C
ENST00000559969.5:c.563T>C
ENST00000626689.2:c.402T>C	ENSP00000486681.1:p.Ser134=
ENST00000646753.1:c.502T>C	ENSP00000494065.1:p.Cys168Arg
ENST00000699682.1:n.997T>C
ENST00000699683.1:n.1047T>C
ENST00000699684.1:c.*200T>C	ENSP00000514523.1:n.*200T>C
ENST00000699685.1:n.811T>C
ENST00000699686.1:c.400T>C	ENSP00000514524.1:p.Cys134Arg
ENST00000699687.1:c.502T>C	ENSP00000514525.1:p.Cys168Arg
ENST00000699688.1:n.807T>C
ENST00000699689.1:n.1163T>C
ENST00000699690.1:n.1360T>C
ENST00000699691.1:n.1504T>C
ENST00000699693.1:n.1024T>C
ENST00000699694.1:n.1266T>C
ENST00000699695.1:c.297T>C	ENSP00000514526.1:p.Ser99=
ENST00000699696.1:n.910T>C
ENST00000699697.1:c.607T>C	ENSP00000514527.1:p.Cys203Arg
ENST00000699698.1:n.528T>C
ENST00000699699.1:n.931T>C
ENST00000699700.1:n.1054T>C
ENST00000699701.1:c.521T>C	ENSP00000514528.1:p.Val174Ala
XM_005267528.2:c.607T>C	XP_005267585.1:p.Cys203Arg
XM_005267529.2:c.502T>C	XP_005267586.1:p.Cys168Arg
XM_011536642.1:c.530T>C	XP_011534944.1:p.Val177Ala
XM_011536642.2:c.530T>C	XP_011534944.1:p.Val177Ala
XM_017021216.2:c.-36T>C	XP_016876705.1:n.-36T>C
XM_017021217.1:c.-36T>C	XP_016876706.1:n.-36T>C