Canonical Allele Identifier: CA389223619

Gene: TINF2

Linked Data

• ClinVar Variation Id: 529184
• ClinVar RCV Id: RCV000634496
• dbSNP Id: rs1555303978
• MyVariant Identifiers: chr14:g.24709661T>G (hg19) ; chr14:g.24240455T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240455T>G , CM000676.2:g.24240455T>G	GRCh38
NC_000014.8:g.24709661T>G , CM000676.1:g.24709661T>G	GRCh37
NC_000014.7:g.23779501T>G	NCBI36
NG_016650.1:g.7220A>C
NG_054634.1:g.13039T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1328A>C
ENST00000557921.3:c.917A>C	ENSP00000453157.3:p.Glu306Ala
ENST00000699682.1:n.1415A>C
ENST00000699683.1:n.1465A>C
ENST00000699684.1:c.*618A>C	ENSP00000514523.1:n.*618A>C
ENST00000699685.1:n.1229A>C
ENST00000699686.1:c.818A>C	ENSP00000514524.1:p.Glu273Ala
ENST00000699687.1:c.920A>C	ENSP00000514525.1:p.Glu307Ala
ENST00000699688.1:n.1225A>C
ENST00000699689.1:n.1581A>C
ENST00000699690.1:n.1778A>C
ENST00000699691.1:n.1922A>C
ENST00000699693.1:n.1442A>C
ENST00000699694.1:n.1684A>C
ENST00000699695.1:c.*397A>C	ENSP00000514526.1:n.*397A>C
ENST00000699696.1:n.1328A>C
ENST00000699697.1:c.1025A>C	ENSP00000514527.1:p.Glu342Ala
ENST00000699698.1:n.946A>C
ENST00000699699.1:n.1349A>C
ENST00000699700.1:n.1472A>C
ENST00000699701.1:c.*405A>C	ENSP00000514528.1:n.*405A>C
ENST00000267415.12:c.1025A>C MANE Select	ENSP00000267415.7:p.Glu342Ala
ENST00000646753.1:c.920A>C	ENSP00000494065.1:p.Glu307Ala
ENST00000267415.11:c.1025A>C	ENSP00000267415.7:p.Glu342Ala
ENST00000399423.8:c.1025A>C	ENSP00000382350.4:p.Glu342Ala
ENST00000557915.1:n.144A>C
ENST00000558566.1:c.*397A>C	ENSP00000453025.1:n.*397A>C
ENST00000559969.5:c.783A>C
ENST00000560019.5:c.20A>C	ENSP00000453113.1:p.Glu7Ala
ENST00000626689.2:c.*397A>C	ENSP00000486681.1:n.*397A>C
NM_001099274.1:c.1025A>C	NP_001092744.1:p.Glu342Ala
NM_012461.2:c.1025A>C	NP_036593.2:p.Glu342Ala
XM_005267528.2:c.1025A>C	XP_005267585.1:p.Glu342Ala
XM_005267529.2:c.920A>C	XP_005267586.1:p.Glu307Ala
NM_001099274.2:c.1025A>C	NP_001092744.1:p.Glu342Ala
NM_001363668.1:c.920A>C	NP_001350597.1:p.Glu307Ala
NM_012461.3:c.1025A>C	NP_036593.2:p.Glu342Ala
XM_011536642.2:c.*405A>C	XP_011534944.1:n.*405A>C
XM_017021216.2:c.383A>C	XP_016876705.1:p.Glu128Ala
XM_017021217.1:c.383A>C	XP_016876706.1:p.Glu128Ala
NM_001099274.3:c.1025A>C MANE Select	NP_001092744.1:p.Glu342Ala
NM_001363668.2:c.920A>C	NP_001350597.1:p.Glu307Ala