Canonical Allele Identifier: CA389225945

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240663-C-T
• MyVariant Identifiers: chr14:g.24709869C>T (hg19) ; chr14:g.24240663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240663C>T , CM000676.2:g.24240663C>T	GRCh38
NC_000014.8:g.24709869C>T , CM000676.1:g.24709869C>T	GRCh37
NC_000014.7:g.23779709C>T	NCBI36
NG_016650.1:g.7012G>A
NG_054634.1:g.13247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1120G>A
ENST00000557921.3:c.709G>A	ENSP00000453157.3:p.Ala237Thr
ENST00000699682.1:n.1207G>A
ENST00000699683.1:n.1257G>A
ENST00000699684.1:c.*410G>A	ENSP00000514523.1:n.*410G>A
ENST00000699685.1:n.1021G>A
ENST00000699686.1:c.610G>A	ENSP00000514524.1:p.Ala204Thr
ENST00000699687.1:c.712G>A	ENSP00000514525.1:p.Ala238Thr
ENST00000699688.1:n.1017G>A
ENST00000699689.1:n.1373G>A
ENST00000699690.1:n.1570G>A
ENST00000699691.1:n.1714G>A
ENST00000699693.1:n.1234G>A
ENST00000699694.1:n.1476G>A
ENST00000699695.1:c.*189G>A	ENSP00000514526.1:n.*189G>A
ENST00000699696.1:n.1120G>A
ENST00000699697.1:c.817G>A	ENSP00000514527.1:p.Ala273Thr
ENST00000699698.1:n.738G>A
ENST00000699699.1:n.1141G>A
ENST00000699700.1:n.1264G>A
ENST00000699701.1:c.*197G>A	ENSP00000514528.1:n.*197G>A
ENST00000267415.12:c.817G>A MANE Select	ENSP00000267415.7:p.Ala273Thr
ENST00000557921.2:c.709G>A	ENSP00000453157.2:p.Ala237Thr
ENST00000646753.1:c.712G>A	ENSP00000494065.1:p.Ala238Thr
ENST00000267415.11:c.817G>A	ENSP00000267415.7:p.Ala273Thr
ENST00000399423.8:c.817G>A	ENSP00000382350.4:p.Ala273Thr
ENST00000558476.5:c.379G>A	ENSP00000452724.1:p.Ala127Thr
ENST00000558566.1:c.*189G>A	ENSP00000453025.1:n.*189G>A
ENST00000559019.1:c.*189G>A	ENSP00000453675.1:n.*189G>A
ENST00000559549.1:n.543G>A
ENST00000559969.5:c.757+16G>A
ENST00000626689.2:c.*189G>A	ENSP00000486681.1:n.*189G>A
NM_001099274.1:c.817G>A	NP_001092744.1:p.Ala273Thr
NM_012461.2:c.817G>A	NP_036593.2:p.Ala273Thr
XM_005267528.2:c.817G>A	XP_005267585.1:p.Ala273Thr
XM_005267529.2:c.712G>A	XP_005267586.1:p.Ala238Thr
NM_001099274.2:c.817G>A	NP_001092744.1:p.Ala273Thr
NM_001363668.1:c.712G>A	NP_001350597.1:p.Ala238Thr
NM_012461.3:c.817G>A	NP_036593.2:p.Ala273Thr
XM_011536642.2:c.*197G>A	XP_011534944.1:n.*197G>A
XM_017021216.2:c.175G>A	XP_016876705.1:p.Ala59Thr
XM_017021217.1:c.175G>A	XP_016876706.1:p.Ala59Thr
NM_001099274.3:c.817G>A MANE Select	NP_001092744.1:p.Ala273Thr
NM_001363668.2:c.712G>A	NP_001350597.1:p.Ala238Thr