Canonical Allele Identifier: CA389226964

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709961T>G (hg19) ; chr14:g.24240755T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240755T>G , CM000676.2:g.24240755T>G	GRCh38
NC_000014.8:g.24709961T>G , CM000676.1:g.24709961T>G	GRCh37
NC_000014.7:g.23779801T>G	NCBI36
NG_016650.1:g.6920A>C
NG_054634.1:g.13339T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1028A>C
ENST00000557921.3:c.617A>C	ENSP00000453157.3:p.Gln206Pro
ENST00000699682.1:n.1115A>C
ENST00000699683.1:n.1165A>C
ENST00000699684.1:c.*318A>C	ENSP00000514523.1:n.*318A>C
ENST00000699685.1:n.929A>C
ENST00000699686.1:c.518A>C	ENSP00000514524.1:p.Gln173Pro
ENST00000699687.1:c.620A>C	ENSP00000514525.1:p.Gln207Pro
ENST00000699688.1:n.925A>C
ENST00000699689.1:n.1281A>C
ENST00000699690.1:n.1478A>C
ENST00000699691.1:n.1622A>C
ENST00000699693.1:n.1142A>C
ENST00000699694.1:n.1384A>C
ENST00000699695.1:c.*97A>C	ENSP00000514526.1:n.*97A>C
ENST00000699696.1:n.1028A>C
ENST00000699697.1:c.725A>C	ENSP00000514527.1:p.Gln242Pro
ENST00000699698.1:n.646A>C
ENST00000699699.1:n.1049A>C
ENST00000699700.1:n.1172A>C
ENST00000699701.1:c.*105A>C	ENSP00000514528.1:n.*105A>C
ENST00000267415.12:c.725A>C MANE Select	ENSP00000267415.7:p.Gln242Pro
ENST00000557921.2:c.617A>C	ENSP00000453157.2:p.Gln206Pro
ENST00000646753.1:c.620A>C	ENSP00000494065.1:p.Gln207Pro
ENST00000267415.11:c.725A>C	ENSP00000267415.7:p.Gln242Pro
ENST00000399423.8:c.725A>C	ENSP00000382350.4:p.Gln242Pro
ENST00000558476.5:c.287A>C	ENSP00000452724.1:p.Gln96Pro
ENST00000558566.1:c.*97A>C	ENSP00000453025.1:n.*97A>C
ENST00000559019.1:c.*97A>C	ENSP00000453675.1:n.*97A>C
ENST00000559549.1:n.451A>C
ENST00000559969.5:c.681A>C
ENST00000626689.2:c.*97A>C	ENSP00000486681.1:n.*97A>C
NM_001099274.1:c.725A>C	NP_001092744.1:p.Gln242Pro
NM_012461.2:c.725A>C	NP_036593.2:p.Gln242Pro
XM_005267528.2:c.725A>C	XP_005267585.1:p.Gln242Pro
XM_005267529.2:c.620A>C	XP_005267586.1:p.Gln207Pro
NM_001099274.2:c.725A>C	NP_001092744.1:p.Gln242Pro
NM_001363668.1:c.620A>C	NP_001350597.1:p.Gln207Pro
NM_012461.3:c.725A>C	NP_036593.2:p.Gln242Pro
XM_011536642.2:c.*105A>C	XP_011534944.1:n.*105A>C
XM_017021216.2:c.83A>C	XP_016876705.1:p.Gln28Pro
XM_017021217.1:c.83A>C	XP_016876706.1:p.Gln28Pro
NM_001099274.3:c.725A>C MANE Select	NP_001092744.1:p.Gln242Pro
NM_001363668.2:c.620A>C	NP_001350597.1:p.Gln207Pro