Canonical Allele Identifier: CA485782339

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709969A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240763A>G , CM000676.2:g.24240763A>G	GRCh38
NC_000014.8:g.24709969A>G , CM000676.1:g.24709969A>G	GRCh37
NC_000014.7:g.23779809A>G	NCBI36
NG_016650.1:g.6912T>C
NG_054634.1:g.13347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1020T>C
ENST00000557921.3:c.609T>C	ENSP00000453157.3:p.His203=
ENST00000699682.1:n.1107T>C
ENST00000699683.1:n.1157T>C
ENST00000699684.1:c.*310T>C	ENSP00000514523.1:n.*310T>C
ENST00000699685.1:n.921T>C
ENST00000699686.1:c.510T>C	ENSP00000514524.1:p.His170=
ENST00000699687.1:c.612T>C	ENSP00000514525.1:p.His204=
ENST00000699688.1:n.917T>C
ENST00000699689.1:n.1273T>C
ENST00000699690.1:n.1470T>C
ENST00000699691.1:n.1614T>C
ENST00000699693.1:n.1134T>C
ENST00000699694.1:n.1376T>C
ENST00000699695.1:c.*89T>C	ENSP00000514526.1:n.*89T>C
ENST00000699696.1:n.1020T>C
ENST00000699697.1:c.717T>C	ENSP00000514527.1:p.His239=
ENST00000699698.1:n.638T>C
ENST00000699699.1:n.1041T>C
ENST00000699700.1:n.1164T>C
ENST00000699701.1:c.*97T>C	ENSP00000514528.1:n.*97T>C
ENST00000267415.12:c.717T>C MANE Select	ENSP00000267415.7:p.His239=
ENST00000557921.2:c.609T>C	ENSP00000453157.2:p.His203=
ENST00000646753.1:c.612T>C	ENSP00000494065.1:p.His204=
ENST00000267415.11:c.717T>C	ENSP00000267415.7:p.His239=
ENST00000399423.8:c.717T>C	ENSP00000382350.4:p.His239=
ENST00000558476.5:c.279T>C	ENSP00000452724.1:p.His93=
ENST00000558566.1:c.*89T>C	ENSP00000453025.1:n.*89T>C
ENST00000559019.1:c.*89T>C	ENSP00000453675.1:n.*89T>C
ENST00000559549.1:n.443T>C
ENST00000559969.5:c.673T>C
ENST00000626689.2:c.*89T>C	ENSP00000486681.1:n.*89T>C
NM_001099274.1:c.717T>C	NP_001092744.1:p.His239=
NM_012461.2:c.717T>C	NP_036593.2:p.His239=
XM_005267528.2:c.717T>C	XP_005267585.1:p.His239=
XM_005267529.2:c.612T>C	XP_005267586.1:p.His204=
NM_001099274.2:c.717T>C	NP_001092744.1:p.His239=
NM_001363668.1:c.612T>C	NP_001350597.1:p.His204=
NM_012461.3:c.717T>C	NP_036593.2:p.His239=
XM_011536642.2:c.*97T>C	XP_011534944.1:n.*97T>C
XM_017021216.2:c.75T>C	XP_016876705.1:p.His25=
XM_017021217.1:c.75T>C	XP_016876706.1:p.His25=
NM_001099274.3:c.717T>C MANE Select	NP_001092744.1:p.His239=
NM_001363668.2:c.612T>C	NP_001350597.1:p.His204=