Canonical Allele Identifier: CA389229729

Gene: TINF2

Linked Data

• dbSNP Id: rs1337384023
• gnomAD v2: 14-24710052-C-T
• gnomAD v4: 14-24240846-C-T
• MyVariant Identifiers: chr14:g.24710052C>T (hg19) ; chr14:g.24240846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240846C>T , CM000676.2:g.24240846C>T	GRCh38
NC_000014.8:g.24710052C>T , CM000676.1:g.24710052C>T	GRCh37
NC_000014.7:g.23779892C>T	NCBI36
NG_016650.1:g.6829G>A
NG_054634.1:g.13430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.937G>A
ENST00000557921.3:c.526G>A	ENSP00000453157.3:p.Ala176Thr
ENST00000699682.1:n.1024G>A
ENST00000699683.1:n.1074G>A
ENST00000699684.1:c.*227G>A	ENSP00000514523.1:n.*227G>A
ENST00000699685.1:n.838G>A
ENST00000699686.1:c.427G>A	ENSP00000514524.1:p.Ala143Thr
ENST00000699687.1:c.529G>A	ENSP00000514525.1:p.Ala177Thr
ENST00000699688.1:n.834G>A
ENST00000699689.1:n.1190G>A
ENST00000699690.1:n.1387G>A
ENST00000699691.1:n.1531G>A
ENST00000699693.1:n.1051G>A
ENST00000699694.1:n.1293G>A
ENST00000699695.1:c.*6G>A	ENSP00000514526.1:n.*6G>A
ENST00000699696.1:n.937G>A
ENST00000699697.1:c.634G>A	ENSP00000514527.1:p.Ala212Thr
ENST00000699698.1:n.555G>A
ENST00000699699.1:n.958G>A
ENST00000699700.1:n.1081G>A
ENST00000699701.1:c.*14G>A	ENSP00000514528.1:n.*14G>A
ENST00000267415.12:c.634G>A MANE Select	ENSP00000267415.7:p.Ala212Thr
ENST00000557921.2:c.526G>A	ENSP00000453157.2:p.Ala176Thr
ENST00000646753.1:c.529G>A	ENSP00000494065.1:p.Ala177Thr
ENST00000267415.11:c.634G>A	ENSP00000267415.7:p.Ala212Thr
ENST00000399423.8:c.634G>A	ENSP00000382350.4:p.Ala212Thr
ENST00000558476.5:c.196G>A	ENSP00000452724.1:p.Ala66Thr
ENST00000558566.1:c.*6G>A	ENSP00000453025.1:n.*6G>A
ENST00000559019.1:c.*6G>A	ENSP00000453675.1:n.*6G>A
ENST00000559549.1:n.360G>A
ENST00000559969.5:c.590G>A
ENST00000626689.2:c.*6G>A	ENSP00000486681.1:n.*6G>A
NM_001099274.1:c.634G>A	NP_001092744.1:p.Ala212Thr
NM_012461.2:c.634G>A	NP_036593.2:p.Ala212Thr
XM_005267528.2:c.634G>A	XP_005267585.1:p.Ala212Thr
XM_005267529.2:c.529G>A	XP_005267586.1:p.Ala177Thr
XM_011536642.1:c.*14G>A	XP_011534944.1:n.*14G>A
NM_001099274.2:c.634G>A	NP_001092744.1:p.Ala212Thr
NM_001363668.1:c.529G>A	NP_001350597.1:p.Ala177Thr
NM_012461.3:c.634G>A	NP_036593.2:p.Ala212Thr
XM_011536642.2:c.*14G>A	XP_011534944.1:n.*14G>A
XM_017021216.2:c.-9G>A	XP_016876705.1:n.-9G>A
XM_017021217.1:c.-9G>A	XP_016876706.1:n.-9G>A
NM_001099274.3:c.634G>A MANE Select	NP_001092744.1:p.Ala212Thr
NM_001363668.2:c.529G>A	NP_001350597.1:p.Ala177Thr