Canonical Allele Identifier: CA389223334

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709628T>G (hg19) ; chr14:g.24240422T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240422T>G , CM000676.2:g.24240422T>G	GRCh38
NC_000014.8:g.24709628T>G , CM000676.1:g.24709628T>G	GRCh37
NC_000014.7:g.23779468T>G	NCBI36
NG_016650.1:g.7253A>C
NG_054634.1:g.13006T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1361A>C
ENST00000557921.3:c.950A>C	ENSP00000453157.3:p.Lys317Thr
ENST00000699682.1:n.1448A>C
ENST00000699683.1:n.1498A>C
ENST00000699684.1:c.*651A>C	ENSP00000514523.1:n.*651A>C
ENST00000699685.1:n.1262A>C
ENST00000699686.1:c.851A>C	ENSP00000514524.1:p.Lys284Thr
ENST00000699687.1:c.953A>C	ENSP00000514525.1:p.Lys318Thr
ENST00000699688.1:n.1258A>C
ENST00000699689.1:n.1614A>C
ENST00000699690.1:n.1811A>C
ENST00000699691.1:n.1955A>C
ENST00000699693.1:n.1475A>C
ENST00000699694.1:n.1717A>C
ENST00000699695.1:c.*430A>C	ENSP00000514526.1:n.*430A>C
ENST00000699696.1:n.1361A>C
ENST00000699697.1:c.1058A>C	ENSP00000514527.1:p.Lys353Thr
ENST00000699698.1:n.979A>C
ENST00000699699.1:n.1382A>C
ENST00000699700.1:n.1505A>C
ENST00000699701.1:c.*438A>C	ENSP00000514528.1:n.*438A>C
ENST00000267415.12:c.1058A>C MANE Select	ENSP00000267415.7:p.Lys353Thr
ENST00000646753.1:c.953A>C	ENSP00000494065.1:p.Lys318Thr
ENST00000267415.11:c.1058A>C	ENSP00000267415.7:p.Lys353Thr
ENST00000399423.8:c.1058A>C	ENSP00000382350.4:p.Lys353Thr
ENST00000557915.1:n.177A>C
ENST00000558566.1:c.*430A>C	ENSP00000453025.1:n.*430A>C
ENST00000559969.5:c.816A>C
ENST00000560019.5:c.53A>C	ENSP00000453113.1:p.Lys18Thr
ENST00000626689.2:c.*430A>C	ENSP00000486681.1:n.*430A>C
NM_001099274.1:c.1058A>C	NP_001092744.1:p.Lys353Thr
NM_012461.2:c.1058A>C	NP_036593.2:p.Lys353Thr
XM_005267528.2:c.1058A>C	XP_005267585.1:p.Lys353Thr
XM_005267529.2:c.953A>C	XP_005267586.1:p.Lys318Thr
NM_001099274.2:c.1058A>C	NP_001092744.1:p.Lys353Thr
NM_001363668.1:c.953A>C	NP_001350597.1:p.Lys318Thr
NM_012461.3:c.1058A>C	NP_036593.2:p.Lys353Thr
XM_011536642.2:c.*438A>C	XP_011534944.1:n.*438A>C
XM_017021216.2:c.416A>C	XP_016876705.1:p.Lys139Thr
XM_017021217.1:c.416A>C	XP_016876706.1:p.Lys139Thr
NM_001099274.3:c.1058A>C MANE Select	NP_001092744.1:p.Lys353Thr
NM_001363668.2:c.953A>C	NP_001350597.1:p.Lys318Thr