Canonical Allele Identifier: CA389223410

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240429-C-T
• MyVariant Identifiers: chr14:g.24709635C>T (hg19) ; chr14:g.24240429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240429C>T , CM000676.2:g.24240429C>T	GRCh38
NC_000014.8:g.24709635C>T , CM000676.1:g.24709635C>T	GRCh37
NC_000014.7:g.23779475C>T	NCBI36
NG_016650.1:g.7246G>A
NG_054634.1:g.13013C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1354G>A
ENST00000557921.3:c.943G>A	ENSP00000453157.3:p.Glu315Lys
ENST00000699682.1:n.1441G>A
ENST00000699683.1:n.1491G>A
ENST00000699684.1:c.*644G>A	ENSP00000514523.1:n.*644G>A
ENST00000699685.1:n.1255G>A
ENST00000699686.1:c.844G>A	ENSP00000514524.1:p.Glu282Lys
ENST00000699687.1:c.946G>A	ENSP00000514525.1:p.Glu316Lys
ENST00000699688.1:n.1251G>A
ENST00000699689.1:n.1607G>A
ENST00000699690.1:n.1804G>A
ENST00000699691.1:n.1948G>A
ENST00000699693.1:n.1468G>A
ENST00000699694.1:n.1710G>A
ENST00000699695.1:c.*423G>A	ENSP00000514526.1:n.*423G>A
ENST00000699696.1:n.1354G>A
ENST00000699697.1:c.1051G>A	ENSP00000514527.1:p.Glu351Lys
ENST00000699698.1:n.972G>A
ENST00000699699.1:n.1375G>A
ENST00000699700.1:n.1498G>A
ENST00000699701.1:c.*431G>A	ENSP00000514528.1:n.*431G>A
ENST00000267415.12:c.1051G>A MANE Select	ENSP00000267415.7:p.Glu351Lys
ENST00000646753.1:c.946G>A	ENSP00000494065.1:p.Glu316Lys
ENST00000267415.11:c.1051G>A	ENSP00000267415.7:p.Glu351Lys
ENST00000399423.8:c.1051G>A	ENSP00000382350.4:p.Glu351Lys
ENST00000557915.1:n.170G>A
ENST00000558566.1:c.*423G>A	ENSP00000453025.1:n.*423G>A
ENST00000559969.5:c.809G>A
ENST00000560019.5:c.46G>A	ENSP00000453113.1:p.Glu16Lys
ENST00000626689.2:c.*423G>A	ENSP00000486681.1:n.*423G>A
NM_001099274.1:c.1051G>A	NP_001092744.1:p.Glu351Lys
NM_012461.2:c.1051G>A	NP_036593.2:p.Glu351Lys
XM_005267528.2:c.1051G>A	XP_005267585.1:p.Glu351Lys
XM_005267529.2:c.946G>A	XP_005267586.1:p.Glu316Lys
NM_001099274.2:c.1051G>A	NP_001092744.1:p.Glu351Lys
NM_001363668.1:c.946G>A	NP_001350597.1:p.Glu316Lys
NM_012461.3:c.1051G>A	NP_036593.2:p.Glu351Lys
XM_011536642.2:c.*431G>A	XP_011534944.1:n.*431G>A
XM_017021216.2:c.409G>A	XP_016876705.1:p.Glu137Lys
XM_017021217.1:c.409G>A	XP_016876706.1:p.Glu137Lys
NM_001099274.3:c.1051G>A MANE Select	NP_001092744.1:p.Glu351Lys
NM_001363668.2:c.946G>A	NP_001350597.1:p.Glu316Lys