Canonical Allele Identifier: CA389223671

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709671C>A (hg19) ; chr14:g.24240465C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240465C>A , CM000676.2:g.24240465C>A	GRCh38
NC_000014.8:g.24709671C>A , CM000676.1:g.24709671C>A	GRCh37
NC_000014.7:g.23779511C>A	NCBI36
NG_016650.1:g.7210G>T
NG_054634.1:g.13049C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1318G>T
ENST00000557921.3:c.907G>T	ENSP00000453157.3:p.Ala303Ser
ENST00000699682.1:n.1405G>T
ENST00000699683.1:n.1455G>T
ENST00000699684.1:c.*608G>T	ENSP00000514523.1:n.*608G>T
ENST00000699685.1:n.1219G>T
ENST00000699686.1:c.808G>T	ENSP00000514524.1:p.Ala270Ser
ENST00000699687.1:c.910G>T	ENSP00000514525.1:p.Ala304Ser
ENST00000699688.1:n.1215G>T
ENST00000699689.1:n.1571G>T
ENST00000699690.1:n.1768G>T
ENST00000699691.1:n.1912G>T
ENST00000699693.1:n.1432G>T
ENST00000699694.1:n.1674G>T
ENST00000699695.1:c.*387G>T	ENSP00000514526.1:n.*387G>T
ENST00000699696.1:n.1318G>T
ENST00000699697.1:c.1015G>T	ENSP00000514527.1:p.Ala339Ser
ENST00000699698.1:n.936G>T
ENST00000699699.1:n.1339G>T
ENST00000699700.1:n.1462G>T
ENST00000699701.1:c.*395G>T	ENSP00000514528.1:n.*395G>T
ENST00000267415.12:c.1015G>T MANE Select	ENSP00000267415.7:p.Ala339Ser
ENST00000646753.1:c.910G>T	ENSP00000494065.1:p.Ala304Ser
ENST00000267415.11:c.1015G>T	ENSP00000267415.7:p.Ala339Ser
ENST00000399423.8:c.1015G>T	ENSP00000382350.4:p.Ala339Ser
ENST00000557915.1:n.134G>T
ENST00000558566.1:c.*387G>T	ENSP00000453025.1:n.*387G>T
ENST00000559969.5:c.773G>T
ENST00000560019.5:c.10G>T	ENSP00000453113.1:p.Ala4Ser
ENST00000626689.2:c.*387G>T	ENSP00000486681.1:n.*387G>T
NM_001099274.1:c.1015G>T	NP_001092744.1:p.Ala339Ser
NM_012461.2:c.1015G>T	NP_036593.2:p.Ala339Ser
XM_005267528.2:c.1015G>T	XP_005267585.1:p.Ala339Ser
XM_005267529.2:c.910G>T	XP_005267586.1:p.Ala304Ser
NM_001099274.2:c.1015G>T	NP_001092744.1:p.Ala339Ser
NM_001363668.1:c.910G>T	NP_001350597.1:p.Ala304Ser
NM_012461.3:c.1015G>T	NP_036593.2:p.Ala339Ser
XM_011536642.2:c.*395G>T	XP_011534944.1:n.*395G>T
XM_017021216.2:c.373G>T	XP_016876705.1:p.Ala125Ser
XM_017021217.1:c.373G>T	XP_016876706.1:p.Ala125Ser
NM_001099274.3:c.1015G>T MANE Select	NP_001092744.1:p.Ala339Ser
NM_001363668.2:c.910G>T	NP_001350597.1:p.Ala304Ser