Canonical Allele Identifier: CA389226104

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709880T>G (hg19) ; chr14:g.24240674T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240674T>G , CM000676.2:g.24240674T>G	GRCh38
NC_000014.8:g.24709880T>G , CM000676.1:g.24709880T>G	GRCh37
NC_000014.7:g.23779720T>G	NCBI36
NG_016650.1:g.7001A>C
NG_054634.1:g.13258T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1109A>C
ENST00000557921.3:c.698A>C	ENSP00000453157.3:p.Gln233Pro
ENST00000699682.1:n.1196A>C
ENST00000699683.1:n.1246A>C
ENST00000699684.1:c.*399A>C	ENSP00000514523.1:n.*399A>C
ENST00000699685.1:n.1010A>C
ENST00000699686.1:c.599A>C	ENSP00000514524.1:p.Gln200Pro
ENST00000699687.1:c.701A>C	ENSP00000514525.1:p.Gln234Pro
ENST00000699688.1:n.1006A>C
ENST00000699689.1:n.1362A>C
ENST00000699690.1:n.1559A>C
ENST00000699691.1:n.1703A>C
ENST00000699693.1:n.1223A>C
ENST00000699694.1:n.1465A>C
ENST00000699695.1:c.*178A>C	ENSP00000514526.1:n.*178A>C
ENST00000699696.1:n.1109A>C
ENST00000699697.1:c.806A>C	ENSP00000514527.1:p.Gln269Pro
ENST00000699698.1:n.727A>C
ENST00000699699.1:n.1130A>C
ENST00000699700.1:n.1253A>C
ENST00000699701.1:c.*186A>C	ENSP00000514528.1:n.*186A>C
ENST00000267415.12:c.806A>C MANE Select	ENSP00000267415.7:p.Gln269Pro
ENST00000557921.2:c.698A>C	ENSP00000453157.2:p.Gln233Pro
ENST00000646753.1:c.701A>C	ENSP00000494065.1:p.Gln234Pro
ENST00000267415.11:c.806A>C	ENSP00000267415.7:p.Gln269Pro
ENST00000399423.8:c.806A>C	ENSP00000382350.4:p.Gln269Pro
ENST00000558476.5:c.368A>C	ENSP00000452724.1:p.Gln123Pro
ENST00000558566.1:c.*178A>C	ENSP00000453025.1:n.*178A>C
ENST00000559019.1:c.*178A>C	ENSP00000453675.1:n.*178A>C
ENST00000559549.1:n.532A>C
ENST00000559969.5:c.757+5A>C
ENST00000626689.2:c.*178A>C	ENSP00000486681.1:n.*178A>C
NM_001099274.1:c.806A>C	NP_001092744.1:p.Gln269Pro
NM_012461.2:c.806A>C	NP_036593.2:p.Gln269Pro
XM_005267528.2:c.806A>C	XP_005267585.1:p.Gln269Pro
XM_005267529.2:c.701A>C	XP_005267586.1:p.Gln234Pro
NM_001099274.2:c.806A>C	NP_001092744.1:p.Gln269Pro
NM_001363668.1:c.701A>C	NP_001350597.1:p.Gln234Pro
NM_012461.3:c.806A>C	NP_036593.2:p.Gln269Pro
XM_011536642.2:c.*186A>C	XP_011534944.1:n.*186A>C
XM_017021216.2:c.164A>C	XP_016876705.1:p.Gln55Pro
XM_017021217.1:c.164A>C	XP_016876706.1:p.Gln55Pro
NM_001099274.3:c.806A>C MANE Select	NP_001092744.1:p.Gln269Pro
NM_001363668.2:c.701A>C	NP_001350597.1:p.Gln234Pro