Canonical Allele Identifier: CA389225619

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1695962
• ClinVar RCV Id: RCV002509813 ; RCV003645906
• MyVariant Identifiers: chr14:g.24709848T>G (hg19) ; chr14:g.24240642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240642T>G , CM000676.2:g.24240642T>G	GRCh38
NC_000014.8:g.24709848T>G , CM000676.1:g.24709848T>G	GRCh37
NC_000014.7:g.23779688T>G	NCBI36
NG_016650.1:g.7033A>C
NG_054634.1:g.13226T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1141A>C
ENST00000557921.3:c.730A>C	ENSP00000453157.3:p.Lys244Gln
ENST00000699682.1:n.1228A>C
ENST00000699683.1:n.1278A>C
ENST00000699684.1:c.*431A>C	ENSP00000514523.1:n.*431A>C
ENST00000699685.1:n.1042A>C
ENST00000699686.1:c.631A>C	ENSP00000514524.1:p.Lys211Gln
ENST00000699687.1:c.733A>C	ENSP00000514525.1:p.Lys245Gln
ENST00000699688.1:n.1038A>C
ENST00000699689.1:n.1394A>C
ENST00000699690.1:n.1591A>C
ENST00000699691.1:n.1735A>C
ENST00000699693.1:n.1255A>C
ENST00000699694.1:n.1497A>C
ENST00000699695.1:c.*210A>C	ENSP00000514526.1:n.*210A>C
ENST00000699696.1:n.1141A>C
ENST00000699697.1:c.838A>C	ENSP00000514527.1:p.Lys280Gln
ENST00000699698.1:n.759A>C
ENST00000699699.1:n.1162A>C
ENST00000699700.1:n.1285A>C
ENST00000699701.1:c.*218A>C	ENSP00000514528.1:n.*218A>C
ENST00000267415.12:c.838A>C MANE Select	ENSP00000267415.7:p.Lys280Gln
ENST00000557921.2:c.730A>C	ENSP00000453157.2:p.Lys244Gln
ENST00000646753.1:c.733A>C	ENSP00000494065.1:p.Lys245Gln
ENST00000267415.11:c.838A>C	ENSP00000267415.7:p.Lys280Gln
ENST00000399423.8:c.838A>C	ENSP00000382350.4:p.Lys280Gln
ENST00000558476.5:c.400A>C	ENSP00000452724.1:p.Lys134Gln
ENST00000558566.1:c.*210A>C	ENSP00000453025.1:n.*210A>C
ENST00000559019.1:c.*210A>C	ENSP00000453675.1:n.*210A>C
ENST00000559549.1:n.564A>C
ENST00000559969.5:c.757+37A>C
ENST00000626689.2:c.*210A>C	ENSP00000486681.1:n.*210A>C
NM_001099274.1:c.838A>C	NP_001092744.1:p.Lys280Gln
NM_012461.2:c.838A>C	NP_036593.2:p.Lys280Gln
XM_005267528.2:c.838A>C	XP_005267585.1:p.Lys280Gln
XM_005267529.2:c.733A>C	XP_005267586.1:p.Lys245Gln
NM_001099274.2:c.838A>C	NP_001092744.1:p.Lys280Gln
NM_001363668.1:c.733A>C	NP_001350597.1:p.Lys245Gln
NM_012461.3:c.838A>C	NP_036593.2:p.Lys280Gln
XM_011536642.2:c.*218A>C	XP_011534944.1:n.*218A>C
XM_017021216.2:c.196A>C	XP_016876705.1:p.Lys66Gln
XM_017021217.1:c.196A>C	XP_016876706.1:p.Lys66Gln
NM_001099274.3:c.838A>C MANE Select	NP_001092744.1:p.Lys280Gln
NM_001363668.2:c.733A>C	NP_001350597.1:p.Lys245Gln