Canonical Allele Identifier: CA389226317

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2079474
• ClinVar RCV Id: RCV002995401
• dbSNP Id: rs2040556025
• gnomAD v4: 14-24240690-C-T
• MyVariant Identifiers: chr14:g.24709896C>T (hg19) ; chr14:g.24240690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240690C>T , CM000676.2:g.24240690C>T	GRCh38
NC_000014.8:g.24709896C>T , CM000676.1:g.24709896C>T	GRCh37
NC_000014.7:g.23779736C>T	NCBI36
NG_016650.1:g.6985G>A
NG_054634.1:g.13274C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1093G>A
ENST00000557921.3:c.682G>A	ENSP00000453157.3:p.Gly228Ser
ENST00000699682.1:n.1180G>A
ENST00000699683.1:n.1230G>A
ENST00000699684.1:c.*383G>A	ENSP00000514523.1:n.*383G>A
ENST00000699685.1:n.994G>A
ENST00000699686.1:c.583G>A	ENSP00000514524.1:p.Gly195Ser
ENST00000699687.1:c.685G>A	ENSP00000514525.1:p.Gly229Ser
ENST00000699688.1:n.990G>A
ENST00000699689.1:n.1346G>A
ENST00000699690.1:n.1543G>A
ENST00000699691.1:n.1687G>A
ENST00000699693.1:n.1207G>A
ENST00000699694.1:n.1449G>A
ENST00000699695.1:c.*162G>A	ENSP00000514526.1:n.*162G>A
ENST00000699696.1:n.1093G>A
ENST00000699697.1:c.790G>A	ENSP00000514527.1:p.Gly264Ser
ENST00000699698.1:n.711G>A
ENST00000699699.1:n.1114G>A
ENST00000699700.1:n.1237G>A
ENST00000699701.1:c.*170G>A	ENSP00000514528.1:n.*170G>A
ENST00000267415.12:c.790G>A MANE Select	ENSP00000267415.7:p.Gly264Ser
ENST00000557921.2:c.682G>A	ENSP00000453157.2:p.Gly228Ser
ENST00000646753.1:c.685G>A	ENSP00000494065.1:p.Gly229Ser
ENST00000267415.11:c.790G>A	ENSP00000267415.7:p.Gly264Ser
ENST00000399423.8:c.790G>A	ENSP00000382350.4:p.Gly264Ser
ENST00000558476.5:c.352G>A	ENSP00000452724.1:p.Gly118Ser
ENST00000558566.1:c.*162G>A	ENSP00000453025.1:n.*162G>A
ENST00000559019.1:c.*162G>A	ENSP00000453675.1:n.*162G>A
ENST00000559549.1:n.516G>A
ENST00000559969.5:c.746G>A
ENST00000626689.2:c.*162G>A	ENSP00000486681.1:n.*162G>A
NM_001099274.1:c.790G>A	NP_001092744.1:p.Gly264Ser
NM_012461.2:c.790G>A	NP_036593.2:p.Gly264Ser
XM_005267528.2:c.790G>A	XP_005267585.1:p.Gly264Ser
XM_005267529.2:c.685G>A	XP_005267586.1:p.Gly229Ser
NM_001099274.2:c.790G>A	NP_001092744.1:p.Gly264Ser
NM_001363668.1:c.685G>A	NP_001350597.1:p.Gly229Ser
NM_012461.3:c.790G>A	NP_036593.2:p.Gly264Ser
XM_011536642.2:c.*170G>A	XP_011534944.1:n.*170G>A
XM_017021216.2:c.148G>A	XP_016876705.1:p.Gly50Ser
XM_017021217.1:c.148G>A	XP_016876706.1:p.Gly50Ser
NM_001099274.3:c.790G>A MANE Select	NP_001092744.1:p.Gly264Ser
NM_001363668.2:c.685G>A	NP_001350597.1:p.Gly229Ser