Canonical Allele Identifier: CA389223642

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709665T>G (hg19) ; chr14:g.24240459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240459T>G , CM000676.2:g.24240459T>G	GRCh38
NC_000014.8:g.24709665T>G , CM000676.1:g.24709665T>G	GRCh37
NC_000014.7:g.23779505T>G	NCBI36
NG_016650.1:g.7216A>C
NG_054634.1:g.13043T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1324A>C
ENST00000557921.3:c.913A>C	ENSP00000453157.3:p.Lys305Gln
ENST00000699682.1:n.1411A>C
ENST00000699683.1:n.1461A>C
ENST00000699684.1:c.*614A>C	ENSP00000514523.1:n.*614A>C
ENST00000699685.1:n.1225A>C
ENST00000699686.1:c.814A>C	ENSP00000514524.1:p.Lys272Gln
ENST00000699687.1:c.916A>C	ENSP00000514525.1:p.Lys306Gln
ENST00000699688.1:n.1221A>C
ENST00000699689.1:n.1577A>C
ENST00000699690.1:n.1774A>C
ENST00000699691.1:n.1918A>C
ENST00000699693.1:n.1438A>C
ENST00000699694.1:n.1680A>C
ENST00000699695.1:c.*393A>C	ENSP00000514526.1:n.*393A>C
ENST00000699696.1:n.1324A>C
ENST00000699697.1:c.1021A>C	ENSP00000514527.1:p.Lys341Gln
ENST00000699698.1:n.942A>C
ENST00000699699.1:n.1345A>C
ENST00000699700.1:n.1468A>C
ENST00000699701.1:c.*401A>C	ENSP00000514528.1:n.*401A>C
ENST00000267415.12:c.1021A>C MANE Select	ENSP00000267415.7:p.Lys341Gln
ENST00000646753.1:c.916A>C	ENSP00000494065.1:p.Lys306Gln
ENST00000267415.11:c.1021A>C	ENSP00000267415.7:p.Lys341Gln
ENST00000399423.8:c.1021A>C	ENSP00000382350.4:p.Lys341Gln
ENST00000557915.1:n.140A>C
ENST00000558566.1:c.*393A>C	ENSP00000453025.1:n.*393A>C
ENST00000559969.5:c.779A>C
ENST00000560019.5:c.16A>C	ENSP00000453113.1:p.Lys6Gln
ENST00000626689.2:c.*393A>C	ENSP00000486681.1:n.*393A>C
NM_001099274.1:c.1021A>C	NP_001092744.1:p.Lys341Gln
NM_012461.2:c.1021A>C	NP_036593.2:p.Lys341Gln
XM_005267528.2:c.1021A>C	XP_005267585.1:p.Lys341Gln
XM_005267529.2:c.916A>C	XP_005267586.1:p.Lys306Gln
NM_001099274.2:c.1021A>C	NP_001092744.1:p.Lys341Gln
NM_001363668.1:c.916A>C	NP_001350597.1:p.Lys306Gln
NM_012461.3:c.1021A>C	NP_036593.2:p.Lys341Gln
XM_011536642.2:c.*401A>C	XP_011534944.1:n.*401A>C
XM_017021216.2:c.379A>C	XP_016876705.1:p.Lys127Gln
XM_017021217.1:c.379A>C	XP_016876706.1:p.Lys127Gln
NM_001099274.3:c.1021A>C MANE Select	NP_001092744.1:p.Lys341Gln
NM_001363668.2:c.916A>C	NP_001350597.1:p.Lys306Gln