Canonical Allele Identifier: CA389227126

Gene: TINF2

Linked Data

• dbSNP Id: rs199422321
• gnomAD v2: 14-24709980-G-T
• gnomAD v4: 14-24240774-G-T
• COSMIC: COSM954974 ; COSM954975
• MyVariant Identifiers: chr14:g.24709980G>T (hg19) ; chr14:g.24240774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240774G>T , CM000676.2:g.24240774G>T	GRCh38
NC_000014.8:g.24709980G>T , CM000676.1:g.24709980G>T	GRCh37
NC_000014.7:g.23779820G>T	NCBI36
NG_016650.1:g.6901C>A
NG_054634.1:g.13358G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1009C>A
ENST00000557921.3:c.598C>A	ENSP00000453157.3:p.Pro200Thr
ENST00000699682.1:n.1096C>A
ENST00000699683.1:n.1146C>A
ENST00000699684.1:c.*299C>A	ENSP00000514523.1:n.*299C>A
ENST00000699685.1:n.910C>A
ENST00000699686.1:c.499C>A	ENSP00000514524.1:p.Pro167Thr
ENST00000699687.1:c.601C>A	ENSP00000514525.1:p.Pro201Thr
ENST00000699688.1:n.906C>A
ENST00000699689.1:n.1262C>A
ENST00000699690.1:n.1459C>A
ENST00000699691.1:n.1603C>A
ENST00000699693.1:n.1123C>A
ENST00000699694.1:n.1365C>A
ENST00000699695.1:c.*78C>A	ENSP00000514526.1:n.*78C>A
ENST00000699696.1:n.1009C>A
ENST00000699697.1:c.706C>A	ENSP00000514527.1:p.Pro236Thr
ENST00000699698.1:n.627C>A
ENST00000699699.1:n.1030C>A
ENST00000699700.1:n.1153C>A
ENST00000699701.1:c.*86C>A	ENSP00000514528.1:n.*86C>A
ENST00000267415.12:c.706C>A MANE Select	ENSP00000267415.7:p.Pro236Thr
ENST00000557921.2:c.598C>A	ENSP00000453157.2:p.Pro200Thr
ENST00000646753.1:c.601C>A	ENSP00000494065.1:p.Pro201Thr
ENST00000267415.11:c.706C>A	ENSP00000267415.7:p.Pro236Thr
ENST00000399423.8:c.706C>A	ENSP00000382350.4:p.Pro236Thr
ENST00000558476.5:c.268C>A	ENSP00000452724.1:p.Pro90Thr
ENST00000558566.1:c.*78C>A	ENSP00000453025.1:n.*78C>A
ENST00000559019.1:c.*78C>A	ENSP00000453675.1:n.*78C>A
ENST00000559549.1:n.432C>A
ENST00000559969.5:c.662C>A
ENST00000626689.2:c.*78C>A	ENSP00000486681.1:n.*78C>A
NM_001099274.1:c.706C>A	NP_001092744.1:p.Pro236Thr
NM_012461.2:c.706C>A	NP_036593.2:p.Pro236Thr
XM_005267528.2:c.706C>A	XP_005267585.1:p.Pro236Thr
XM_005267529.2:c.601C>A	XP_005267586.1:p.Pro201Thr
NM_001099274.2:c.706C>A	NP_001092744.1:p.Pro236Thr
NM_001363668.1:c.601C>A	NP_001350597.1:p.Pro201Thr
NM_012461.3:c.706C>A	NP_036593.2:p.Pro236Thr
XM_011536642.2:c.*86C>A	XP_011534944.1:n.*86C>A
XM_017021216.2:c.64C>A	XP_016876705.1:p.Pro22Thr
XM_017021217.1:c.64C>A	XP_016876706.1:p.Pro22Thr
NM_001099274.3:c.706C>A MANE Select	NP_001092744.1:p.Pro236Thr
NM_001363668.2:c.601C>A	NP_001350597.1:p.Pro201Thr