Canonical Allele Identifier: CA389223487

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240439-C-A
• MyVariant Identifiers: chr14:g.24709645C>A (hg19) ; chr14:g.24240439C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240439C>A , CM000676.2:g.24240439C>A	GRCh38
NC_000014.8:g.24709645C>A , CM000676.1:g.24709645C>A	GRCh37
NC_000014.7:g.23779485C>A	NCBI36
NG_016650.1:g.7236G>T
NG_054634.1:g.13023C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1344G>T
ENST00000557921.3:c.933G>T	ENSP00000453157.3:p.Leu311Phe
ENST00000699682.1:n.1431G>T
ENST00000699683.1:n.1481G>T
ENST00000699684.1:c.*634G>T	ENSP00000514523.1:n.*634G>T
ENST00000699685.1:n.1245G>T
ENST00000699686.1:c.834G>T	ENSP00000514524.1:p.Leu278Phe
ENST00000699687.1:c.936G>T	ENSP00000514525.1:p.Leu312Phe
ENST00000699688.1:n.1241G>T
ENST00000699689.1:n.1597G>T
ENST00000699690.1:n.1794G>T
ENST00000699691.1:n.1938G>T
ENST00000699693.1:n.1458G>T
ENST00000699694.1:n.1700G>T
ENST00000699695.1:c.*413G>T	ENSP00000514526.1:n.*413G>T
ENST00000699696.1:n.1344G>T
ENST00000699697.1:c.1041G>T	ENSP00000514527.1:p.Leu347Phe
ENST00000699698.1:n.962G>T
ENST00000699699.1:n.1365G>T
ENST00000699700.1:n.1488G>T
ENST00000699701.1:c.*421G>T	ENSP00000514528.1:n.*421G>T
ENST00000267415.12:c.1041G>T MANE Select	ENSP00000267415.7:p.Leu347Phe
ENST00000646753.1:c.936G>T	ENSP00000494065.1:p.Leu312Phe
ENST00000267415.11:c.1041G>T	ENSP00000267415.7:p.Leu347Phe
ENST00000399423.8:c.1041G>T	ENSP00000382350.4:p.Leu347Phe
ENST00000557915.1:n.160G>T
ENST00000558566.1:c.*413G>T	ENSP00000453025.1:n.*413G>T
ENST00000559969.5:c.799G>T
ENST00000560019.5:c.36G>T	ENSP00000453113.1:p.Leu12Phe
ENST00000626689.2:c.*413G>T	ENSP00000486681.1:n.*413G>T
NM_001099274.1:c.1041G>T	NP_001092744.1:p.Leu347Phe
NM_012461.2:c.1041G>T	NP_036593.2:p.Leu347Phe
XM_005267528.2:c.1041G>T	XP_005267585.1:p.Leu347Phe
XM_005267529.2:c.936G>T	XP_005267586.1:p.Leu312Phe
NM_001099274.2:c.1041G>T	NP_001092744.1:p.Leu347Phe
NM_001363668.1:c.936G>T	NP_001350597.1:p.Leu312Phe
NM_012461.3:c.1041G>T	NP_036593.2:p.Leu347Phe
XM_011536642.2:c.*421G>T	XP_011534944.1:n.*421G>T
XM_017021216.2:c.399G>T	XP_016876705.1:p.Leu133Phe
XM_017021217.1:c.399G>T	XP_016876706.1:p.Leu133Phe
NM_001099274.3:c.1041G>T MANE Select	NP_001092744.1:p.Leu347Phe
NM_001363668.2:c.936G>T	NP_001350597.1:p.Leu312Phe