Canonical Allele Identifier: CA389225251

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709811T>G (hg19) ; chr14:g.24240605T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240605T>G , CM000676.2:g.24240605T>G	GRCh38
NC_000014.8:g.24709811T>G , CM000676.1:g.24709811T>G	GRCh37
NC_000014.7:g.23779651T>G	NCBI36
NG_016650.1:g.7070A>C
NG_054634.1:g.13189T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1178A>C
ENST00000557921.3:c.767A>C	ENSP00000453157.3:p.Asn256Thr
ENST00000699682.1:n.1265A>C
ENST00000699683.1:n.1315A>C
ENST00000699684.1:c.*468A>C	ENSP00000514523.1:n.*468A>C
ENST00000699685.1:n.1079A>C
ENST00000699686.1:c.668A>C	ENSP00000514524.1:p.Asn223Thr
ENST00000699687.1:c.770A>C	ENSP00000514525.1:p.Asn257Thr
ENST00000699688.1:n.1075A>C
ENST00000699689.1:n.1431A>C
ENST00000699690.1:n.1628A>C
ENST00000699691.1:n.1772A>C
ENST00000699693.1:n.1292A>C
ENST00000699694.1:n.1534A>C
ENST00000699695.1:c.*247A>C	ENSP00000514526.1:n.*247A>C
ENST00000699696.1:n.1178A>C
ENST00000699697.1:c.875A>C	ENSP00000514527.1:p.Asn292Thr
ENST00000699698.1:n.796A>C
ENST00000699699.1:n.1199A>C
ENST00000699700.1:n.1322A>C
ENST00000699701.1:c.*255A>C	ENSP00000514528.1:n.*255A>C
ENST00000267415.12:c.875A>C MANE Select	ENSP00000267415.7:p.Asn292Thr
ENST00000557921.2:c.767A>C	ENSP00000453157.2:p.Asn256Thr
ENST00000646753.1:c.770A>C	ENSP00000494065.1:p.Asn257Thr
ENST00000267415.11:c.875A>C	ENSP00000267415.7:p.Asn292Thr
ENST00000399423.8:c.875A>C	ENSP00000382350.4:p.Asn292Thr
ENST00000558476.5:c.437A>C	ENSP00000452724.1:p.Asn146Thr
ENST00000558566.1:c.*247A>C	ENSP00000453025.1:n.*247A>C
ENST00000559019.1:c.*247A>C	ENSP00000453675.1:n.*247A>C
ENST00000559549.1:n.601A>C
ENST00000559969.5:c.757+74A>C
ENST00000626689.2:c.*247A>C	ENSP00000486681.1:n.*247A>C
NM_001099274.1:c.875A>C	NP_001092744.1:p.Asn292Thr
NM_012461.2:c.875A>C	NP_036593.2:p.Asn292Thr
XM_005267528.2:c.875A>C	XP_005267585.1:p.Asn292Thr
XM_005267529.2:c.770A>C	XP_005267586.1:p.Asn257Thr
NM_001099274.2:c.875A>C	NP_001092744.1:p.Asn292Thr
NM_001363668.1:c.770A>C	NP_001350597.1:p.Asn257Thr
NM_012461.3:c.875A>C	NP_036593.2:p.Asn292Thr
XM_011536642.2:c.*255A>C	XP_011534944.1:n.*255A>C
XM_017021216.2:c.233A>C	XP_016876705.1:p.Asn78Thr
XM_017021217.1:c.233A>C	XP_016876706.1:p.Asn78Thr
NM_001099274.3:c.875A>C MANE Select	NP_001092744.1:p.Asn292Thr
NM_001363668.2:c.770A>C	NP_001350597.1:p.Asn257Thr