Canonical Allele Identifier: CA389225046

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240585-C-T
• MyVariant Identifiers: chr14:g.24709791C>T (hg19) ; chr14:g.24240585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240585C>T , CM000676.2:g.24240585C>T	GRCh38
NC_000014.8:g.24709791C>T , CM000676.1:g.24709791C>T	GRCh37
NC_000014.7:g.23779631C>T	NCBI36
NG_016650.1:g.7090G>A
NG_054634.1:g.13169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1198G>A
ENST00000557921.3:c.787G>A	ENSP00000453157.3:p.Val263Ile
ENST00000699682.1:n.1285G>A
ENST00000699683.1:n.1335G>A
ENST00000699684.1:c.*488G>A	ENSP00000514523.1:n.*488G>A
ENST00000699685.1:n.1099G>A
ENST00000699686.1:c.688G>A	ENSP00000514524.1:p.Val230Ile
ENST00000699687.1:c.790G>A	ENSP00000514525.1:p.Val264Ile
ENST00000699688.1:n.1095G>A
ENST00000699689.1:n.1451G>A
ENST00000699690.1:n.1648G>A
ENST00000699691.1:n.1792G>A
ENST00000699693.1:n.1312G>A
ENST00000699694.1:n.1554G>A
ENST00000699695.1:c.*267G>A	ENSP00000514526.1:n.*267G>A
ENST00000699696.1:n.1198G>A
ENST00000699697.1:c.895G>A	ENSP00000514527.1:p.Val299Ile
ENST00000699698.1:n.816G>A
ENST00000699699.1:n.1219G>A
ENST00000699700.1:n.1342G>A
ENST00000699701.1:c.*275G>A	ENSP00000514528.1:n.*275G>A
ENST00000267415.12:c.895G>A MANE Select	ENSP00000267415.7:p.Val299Ile
ENST00000557921.2:c.787G>A	ENSP00000453157.2:p.Val263Ile
ENST00000646753.1:c.790G>A	ENSP00000494065.1:p.Val264Ile
ENST00000267415.11:c.895G>A	ENSP00000267415.7:p.Val299Ile
ENST00000399423.8:c.895G>A	ENSP00000382350.4:p.Val299Ile
ENST00000557915.1:n.14G>A
ENST00000558566.1:c.*267G>A	ENSP00000453025.1:n.*267G>A
ENST00000559019.1:c.*267G>A	ENSP00000453675.1:n.*267G>A
ENST00000559549.1:n.621G>A
ENST00000559969.5:c.757+94G>A
ENST00000626689.2:c.*267G>A	ENSP00000486681.1:n.*267G>A
NM_001099274.1:c.895G>A	NP_001092744.1:p.Val299Ile
NM_012461.2:c.895G>A	NP_036593.2:p.Val299Ile
XM_005267528.2:c.895G>A	XP_005267585.1:p.Val299Ile
XM_005267529.2:c.790G>A	XP_005267586.1:p.Val264Ile
NM_001099274.2:c.895G>A	NP_001092744.1:p.Val299Ile
NM_001363668.1:c.790G>A	NP_001350597.1:p.Val264Ile
NM_012461.3:c.895G>A	NP_036593.2:p.Val299Ile
XM_011536642.2:c.*275G>A	XP_011534944.1:n.*275G>A
XM_017021216.2:c.253G>A	XP_016876705.1:p.Val85Ile
XM_017021217.1:c.253G>A	XP_016876706.1:p.Val85Ile
NM_001099274.3:c.895G>A MANE Select	NP_001092744.1:p.Val299Ile
NM_001363668.2:c.790G>A	NP_001350597.1:p.Val264Ile