Canonical Allele Identifier: CA389226021

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709873T>G (hg19) ; chr14:g.24240667T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240667T>G , CM000676.2:g.24240667T>G	GRCh38
NC_000014.8:g.24709873T>G , CM000676.1:g.24709873T>G	GRCh37
NC_000014.7:g.23779713T>G	NCBI36
NG_016650.1:g.7008A>C
NG_054634.1:g.13251T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1116A>C
ENST00000557921.3:c.705A>C	ENSP00000453157.3:p.Gln235His
ENST00000699682.1:n.1203A>C
ENST00000699683.1:n.1253A>C
ENST00000699684.1:c.*406A>C	ENSP00000514523.1:n.*406A>C
ENST00000699685.1:n.1017A>C
ENST00000699686.1:c.606A>C	ENSP00000514524.1:p.Gln202His
ENST00000699687.1:c.708A>C	ENSP00000514525.1:p.Gln236His
ENST00000699688.1:n.1013A>C
ENST00000699689.1:n.1369A>C
ENST00000699690.1:n.1566A>C
ENST00000699691.1:n.1710A>C
ENST00000699693.1:n.1230A>C
ENST00000699694.1:n.1472A>C
ENST00000699695.1:c.*185A>C	ENSP00000514526.1:n.*185A>C
ENST00000699696.1:n.1116A>C
ENST00000699697.1:c.813A>C	ENSP00000514527.1:p.Gln271His
ENST00000699698.1:n.734A>C
ENST00000699699.1:n.1137A>C
ENST00000699700.1:n.1260A>C
ENST00000699701.1:c.*193A>C	ENSP00000514528.1:n.*193A>C
ENST00000267415.12:c.813A>C MANE Select	ENSP00000267415.7:p.Gln271His
ENST00000557921.2:c.705A>C	ENSP00000453157.2:p.Gln235His
ENST00000646753.1:c.708A>C	ENSP00000494065.1:p.Gln236His
ENST00000267415.11:c.813A>C	ENSP00000267415.7:p.Gln271His
ENST00000399423.8:c.813A>C	ENSP00000382350.4:p.Gln271His
ENST00000558476.5:c.375A>C	ENSP00000452724.1:p.Gln125His
ENST00000558566.1:c.*185A>C	ENSP00000453025.1:n.*185A>C
ENST00000559019.1:c.*185A>C	ENSP00000453675.1:n.*185A>C
ENST00000559549.1:n.539A>C
ENST00000559969.5:c.757+12A>C
ENST00000626689.2:c.*185A>C	ENSP00000486681.1:n.*185A>C
NM_001099274.1:c.813A>C	NP_001092744.1:p.Gln271His
NM_012461.2:c.813A>C	NP_036593.2:p.Gln271His
XM_005267528.2:c.813A>C	XP_005267585.1:p.Gln271His
XM_005267529.2:c.708A>C	XP_005267586.1:p.Gln236His
NM_001099274.2:c.813A>C	NP_001092744.1:p.Gln271His
NM_001363668.1:c.708A>C	NP_001350597.1:p.Gln236His
NM_012461.3:c.813A>C	NP_036593.2:p.Gln271His
XM_011536642.2:c.*193A>C	XP_011534944.1:n.*193A>C
XM_017021216.2:c.171A>C	XP_016876705.1:p.Gln57His
XM_017021217.1:c.171A>C	XP_016876706.1:p.Gln57His
NM_001099274.3:c.813A>C MANE Select	NP_001092744.1:p.Gln271His
NM_001363668.2:c.708A>C	NP_001350597.1:p.Gln236His