Canonical Allele Identifier: CA7130556

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2422129
• ClinVar RCV Id: RCV003119071
• dbSNP Id: rs552145695
• ExAC: 14:24709849 A / G
• gnomAD v3: 14-24240643-A-G
• gnomAD v4: 14-24240643-A-G
• MyVariant Identifiers: chr14:g.24709849A>G (hg19) ; chr14:g.24240643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240643A>G , CM000676.2:g.24240643A>G	GRCh38
NC_000014.8:g.24709849A>G , CM000676.1:g.24709849A>G	GRCh37
NC_000014.7:g.23779689A>G	NCBI36
NG_016650.1:g.7032T>C
NG_054634.1:g.13227A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1140T>C
ENST00000557921.3:c.729T>C	ENSP00000453157.3:p.His243=
ENST00000699682.1:n.1227T>C
ENST00000699683.1:n.1277T>C
ENST00000699684.1:c.*430T>C	ENSP00000514523.1:n.*430T>C
ENST00000699685.1:n.1041T>C
ENST00000699686.1:c.630T>C	ENSP00000514524.1:p.His210=
ENST00000699687.1:c.732T>C	ENSP00000514525.1:p.His244=
ENST00000699688.1:n.1037T>C
ENST00000699689.1:n.1393T>C
ENST00000699690.1:n.1590T>C
ENST00000699691.1:n.1734T>C
ENST00000699693.1:n.1254T>C
ENST00000699694.1:n.1496T>C
ENST00000699695.1:c.*209T>C	ENSP00000514526.1:n.*209T>C
ENST00000699696.1:n.1140T>C
ENST00000699697.1:c.837T>C	ENSP00000514527.1:p.His279=
ENST00000699698.1:n.758T>C
ENST00000699699.1:n.1161T>C
ENST00000699700.1:n.1284T>C
ENST00000699701.1:c.*217T>C	ENSP00000514528.1:n.*217T>C
ENST00000267415.12:c.837T>C MANE Select	ENSP00000267415.7:p.His279=
ENST00000557921.2:c.729T>C	ENSP00000453157.2:p.His243=
ENST00000646753.1:c.732T>C	ENSP00000494065.1:p.His244=
ENST00000267415.11:c.837T>C	ENSP00000267415.7:p.His279=
ENST00000399423.8:c.837T>C	ENSP00000382350.4:p.His279=
ENST00000558476.5:c.399T>C	ENSP00000452724.1:p.His133=
ENST00000558566.1:c.*209T>C	ENSP00000453025.1:n.*209T>C
ENST00000559019.1:c.*209T>C	ENSP00000453675.1:n.*209T>C
ENST00000559549.1:n.563T>C
ENST00000559969.5:c.757+36T>C
ENST00000626689.2:c.*209T>C	ENSP00000486681.1:n.*209T>C
NM_001099274.1:c.837T>C	NP_001092744.1:p.His279=
NM_012461.2:c.837T>C	NP_036593.2:p.His279=
XM_005267528.2:c.837T>C	XP_005267585.1:p.His279=
XM_005267529.2:c.732T>C	XP_005267586.1:p.His244=
NM_001099274.2:c.837T>C	NP_001092744.1:p.His279=
NM_001363668.1:c.732T>C	NP_001350597.1:p.His244=
NM_012461.3:c.837T>C	NP_036593.2:p.His279=
XM_011536642.2:c.*217T>C	XP_011534944.1:n.*217T>C
XM_017021216.2:c.195T>C	XP_016876705.1:p.His65=
XM_017021217.1:c.195T>C	XP_016876706.1:p.His65=
NM_001099274.3:c.837T>C MANE Select	NP_001092744.1:p.His279=
NM_001363668.2:c.732T>C	NP_001350597.1:p.His244=