Canonical Allele Identifier: CA343185

Gene: TINF2

Linked Data

• ClinVar Variation Id: 38923
• ClinVar RCV Id: RCV000032174 ; RCV002513292
• dbSNP Id: rs199422314
• MyVariant Identifiers: chr14:g.24709836T>C (hg19) ; chr14:g.24240630T>C (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240630T>C , CM000676.2:g.24240630T>C	GRCh38
NC_000014.8:g.24709836T>C , CM000676.1:g.24709836T>C	GRCh37
NC_000014.7:g.23779676T>C	NCBI36
NG_016650.1:g.7045A>G
NG_054634.1:g.13214T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1153A>G
ENST00000557921.3:c.742A>G	ENSP00000453157.3:p.Thr248Ala
ENST00000699682.1:n.1240A>G
ENST00000699683.1:n.1290A>G
ENST00000699684.1:c.*443A>G	ENSP00000514523.1:n.*443A>G
ENST00000699685.1:n.1054A>G
ENST00000699686.1:c.643A>G	ENSP00000514524.1:p.Thr215Ala
ENST00000699687.1:c.745A>G	ENSP00000514525.1:p.Thr249Ala
ENST00000699688.1:n.1050A>G
ENST00000699689.1:n.1406A>G
ENST00000699690.1:n.1603A>G
ENST00000699691.1:n.1747A>G
ENST00000699693.1:n.1267A>G
ENST00000699694.1:n.1509A>G
ENST00000699695.1:c.*222A>G	ENSP00000514526.1:n.*222A>G
ENST00000699696.1:n.1153A>G
ENST00000699697.1:c.850A>G	ENSP00000514527.1:p.Thr284Ala
ENST00000699698.1:n.771A>G
ENST00000699699.1:n.1174A>G
ENST00000699700.1:n.1297A>G
ENST00000699701.1:c.*230A>G	ENSP00000514528.1:n.*230A>G
ENST00000267415.12:c.850A>G MANE Select	ENSP00000267415.7:p.Thr284Ala
ENST00000557921.2:c.742A>G	ENSP00000453157.2:p.Thr248Ala
ENST00000646753.1:c.745A>G	ENSP00000494065.1:p.Thr249Ala
ENST00000267415.11:c.850A>G	ENSP00000267415.7:p.Thr284Ala
ENST00000399423.8:c.850A>G	ENSP00000382350.4:p.Thr284Ala
ENST00000558476.5:c.412A>G	ENSP00000452724.1:p.Thr138Ala
ENST00000558566.1:c.*222A>G	ENSP00000453025.1:n.*222A>G
ENST00000559019.1:c.*222A>G	ENSP00000453675.1:n.*222A>G
ENST00000559549.1:n.576A>G
ENST00000559969.5:c.757+49A>G
ENST00000626689.2:c.*222A>G	ENSP00000486681.1:n.*222A>G
NM_001099274.1:c.850A>G	NP_001092744.1:p.Thr284Ala
NM_012461.2:c.850A>G	NP_036593.2:p.Thr284Ala
XM_005267528.2:c.850A>G	XP_005267585.1:p.Thr284Ala
XM_005267529.2:c.745A>G	XP_005267586.1:p.Thr249Ala
NM_001099274.2:c.850A>G	NP_001092744.1:p.Thr284Ala
NM_001363668.1:c.745A>G	NP_001350597.1:p.Thr249Ala
NM_012461.3:c.850A>G	NP_036593.2:p.Thr284Ala
XM_011536642.2:c.*230A>G	XP_011534944.1:n.*230A>G
XM_017021216.2:c.208A>G	XP_016876705.1:p.Thr70Ala
XM_017021217.1:c.208A>G	XP_016876706.1:p.Thr70Ala
NM_001099274.3:c.850A>G MANE Select	NP_001092744.1:p.Thr284Ala
NM_001363668.2:c.745A>G	NP_001350597.1:p.Thr249Ala