Canonical Allele Identifier: CA389223547

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240446-A-G
• MyVariant Identifiers: chr14:g.24709652A>G (hg19) ; chr14:g.24240446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240446A>G , CM000676.2:g.24240446A>G	GRCh38
NC_000014.8:g.24709652A>G , CM000676.1:g.24709652A>G	GRCh37
NC_000014.7:g.23779492A>G	NCBI36
NG_016650.1:g.7229T>C
NG_054634.1:g.13030A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1337T>C
ENST00000557921.3:c.926T>C	ENSP00000453157.3:p.Val309Ala
ENST00000699682.1:n.1424T>C
ENST00000699683.1:n.1474T>C
ENST00000699684.1:c.*627T>C	ENSP00000514523.1:n.*627T>C
ENST00000699685.1:n.1238T>C
ENST00000699686.1:c.827T>C	ENSP00000514524.1:p.Val276Ala
ENST00000699687.1:c.929T>C	ENSP00000514525.1:p.Val310Ala
ENST00000699688.1:n.1234T>C
ENST00000699689.1:n.1590T>C
ENST00000699690.1:n.1787T>C
ENST00000699691.1:n.1931T>C
ENST00000699693.1:n.1451T>C
ENST00000699694.1:n.1693T>C
ENST00000699695.1:c.*406T>C	ENSP00000514526.1:n.*406T>C
ENST00000699696.1:n.1337T>C
ENST00000699697.1:c.1034T>C	ENSP00000514527.1:p.Val345Ala
ENST00000699698.1:n.955T>C
ENST00000699699.1:n.1358T>C
ENST00000699700.1:n.1481T>C
ENST00000699701.1:c.*414T>C	ENSP00000514528.1:n.*414T>C
ENST00000267415.12:c.1034T>C MANE Select	ENSP00000267415.7:p.Val345Ala
ENST00000646753.1:c.929T>C	ENSP00000494065.1:p.Val310Ala
ENST00000267415.11:c.1034T>C	ENSP00000267415.7:p.Val345Ala
ENST00000399423.8:c.1034T>C	ENSP00000382350.4:p.Val345Ala
ENST00000557915.1:n.153T>C
ENST00000558566.1:c.*406T>C	ENSP00000453025.1:n.*406T>C
ENST00000559969.5:c.792T>C
ENST00000560019.5:c.29T>C	ENSP00000453113.1:p.Val10Ala
ENST00000626689.2:c.*406T>C	ENSP00000486681.1:n.*406T>C
NM_001099274.1:c.1034T>C	NP_001092744.1:p.Val345Ala
NM_012461.2:c.1034T>C	NP_036593.2:p.Val345Ala
XM_005267528.2:c.1034T>C	XP_005267585.1:p.Val345Ala
XM_005267529.2:c.929T>C	XP_005267586.1:p.Val310Ala
NM_001099274.2:c.1034T>C	NP_001092744.1:p.Val345Ala
NM_001363668.1:c.929T>C	NP_001350597.1:p.Val310Ala
NM_012461.3:c.1034T>C	NP_036593.2:p.Val345Ala
XM_011536642.2:c.*414T>C	XP_011534944.1:n.*414T>C
XM_017021216.2:c.392T>C	XP_016876705.1:p.Val131Ala
XM_017021217.1:c.392T>C	XP_016876706.1:p.Val131Ala
NM_001099274.3:c.1034T>C MANE Select	NP_001092744.1:p.Val345Ala
NM_001363668.2:c.929T>C	NP_001350597.1:p.Val310Ala