Canonical Allele Identifier: CA343180

Gene: TINF2

Linked Data

• ClinVar Variation Id: 38920
• ClinVar RCV Id: RCV000032171 ; RCV000428138 ; RCV003407386
• dbSNP Id: rs199422311
• MyVariant Identifiers: chr14:g.24709839G>A (hg19) ; chr14:g.24240633G>A (hg38)
• PubMed: PMID:20301779

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240633G>A , CM000676.2:g.24240633G>A	GRCh38
NC_000014.8:g.24709839G>A , CM000676.1:g.24709839G>A	GRCh37
NC_000014.7:g.23779679G>A	NCBI36
NG_016650.1:g.7042C>T
NG_054634.1:g.13217G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1150C>T
ENST00000557921.3:c.739C>T	ENSP00000453157.3:p.Pro247Ser
ENST00000699682.1:n.1237C>T
ENST00000699683.1:n.1287C>T
ENST00000699684.1:c.*440C>T	ENSP00000514523.1:n.*440C>T
ENST00000699685.1:n.1051C>T
ENST00000699686.1:c.640C>T	ENSP00000514524.1:p.Pro214Ser
ENST00000699687.1:c.742C>T	ENSP00000514525.1:p.Pro248Ser
ENST00000699688.1:n.1047C>T
ENST00000699689.1:n.1403C>T
ENST00000699690.1:n.1600C>T
ENST00000699691.1:n.1744C>T
ENST00000699693.1:n.1264C>T
ENST00000699694.1:n.1506C>T
ENST00000699695.1:c.*219C>T	ENSP00000514526.1:n.*219C>T
ENST00000699696.1:n.1150C>T
ENST00000699697.1:c.847C>T	ENSP00000514527.1:p.Pro283Ser
ENST00000699698.1:n.768C>T
ENST00000699699.1:n.1171C>T
ENST00000699700.1:n.1294C>T
ENST00000699701.1:c.*227C>T	ENSP00000514528.1:n.*227C>T
ENST00000267415.12:c.847C>T MANE Select	ENSP00000267415.7:p.Pro283Ser
ENST00000557921.2:c.739C>T	ENSP00000453157.2:p.Pro247Ser
ENST00000646753.1:c.742C>T	ENSP00000494065.1:p.Pro248Ser
ENST00000267415.11:c.847C>T	ENSP00000267415.7:p.Pro283Ser
ENST00000399423.8:c.847C>T	ENSP00000382350.4:p.Pro283Ser
ENST00000558476.5:c.409C>T	ENSP00000452724.1:p.Pro137Ser
ENST00000558566.1:c.*219C>T	ENSP00000453025.1:n.*219C>T
ENST00000559019.1:c.*219C>T	ENSP00000453675.1:n.*219C>T
ENST00000559549.1:n.573C>T
ENST00000559969.5:c.757+46C>T
ENST00000626689.2:c.*219C>T	ENSP00000486681.1:n.*219C>T
NM_001099274.1:c.847C>T	NP_001092744.1:p.Pro283Ser
NM_012461.2:c.847C>T	NP_036593.2:p.Pro283Ser
XM_005267528.2:c.847C>T	XP_005267585.1:p.Pro283Ser
XM_005267529.2:c.742C>T	XP_005267586.1:p.Pro248Ser
NM_001099274.2:c.847C>T	NP_001092744.1:p.Pro283Ser
NM_001363668.1:c.742C>T	NP_001350597.1:p.Pro248Ser
NM_012461.3:c.847C>T	NP_036593.2:p.Pro283Ser
XM_011536642.2:c.*227C>T	XP_011534944.1:n.*227C>T
XM_017021216.2:c.205C>T	XP_016876705.1:p.Pro69Ser
XM_017021217.1:c.205C>T	XP_016876706.1:p.Pro69Ser
NM_001099274.3:c.847C>T MANE Select	NP_001092744.1:p.Pro283Ser
NM_001363668.2:c.742C>T	NP_001350597.1:p.Pro248Ser