Canonical Allele Identifier: CA485782283

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709930A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240724A>G , CM000676.2:g.24240724A>G	GRCh38
NC_000014.8:g.24709930A>G , CM000676.1:g.24709930A>G	GRCh37
NC_000014.7:g.23779770A>G	NCBI36
NG_016650.1:g.6951T>C
NG_054634.1:g.13308A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1059T>C
ENST00000557921.3:c.648T>C	ENSP00000453157.3:p.Pro216=
ENST00000699682.1:n.1146T>C
ENST00000699683.1:n.1196T>C
ENST00000699684.1:c.*349T>C	ENSP00000514523.1:n.*349T>C
ENST00000699685.1:n.960T>C
ENST00000699686.1:c.549T>C	ENSP00000514524.1:p.Pro183=
ENST00000699687.1:c.651T>C	ENSP00000514525.1:p.Pro217=
ENST00000699688.1:n.956T>C
ENST00000699689.1:n.1312T>C
ENST00000699690.1:n.1509T>C
ENST00000699691.1:n.1653T>C
ENST00000699693.1:n.1173T>C
ENST00000699694.1:n.1415T>C
ENST00000699695.1:c.*128T>C	ENSP00000514526.1:n.*128T>C
ENST00000699696.1:n.1059T>C
ENST00000699697.1:c.756T>C	ENSP00000514527.1:p.Pro252=
ENST00000699698.1:n.677T>C
ENST00000699699.1:n.1080T>C
ENST00000699700.1:n.1203T>C
ENST00000699701.1:c.*136T>C	ENSP00000514528.1:n.*136T>C
ENST00000267415.12:c.756T>C MANE Select	ENSP00000267415.7:p.Pro252=
ENST00000557921.2:c.648T>C	ENSP00000453157.2:p.Pro216=
ENST00000646753.1:c.651T>C	ENSP00000494065.1:p.Pro217=
ENST00000267415.11:c.756T>C	ENSP00000267415.7:p.Pro252=
ENST00000399423.8:c.756T>C	ENSP00000382350.4:p.Pro252=
ENST00000558476.5:c.318T>C	ENSP00000452724.1:p.Pro106=
ENST00000558566.1:c.*128T>C	ENSP00000453025.1:n.*128T>C
ENST00000559019.1:c.*128T>C	ENSP00000453675.1:n.*128T>C
ENST00000559549.1:n.482T>C
ENST00000559969.5:c.712T>C
ENST00000626689.2:c.*128T>C	ENSP00000486681.1:n.*128T>C
NM_001099274.1:c.756T>C	NP_001092744.1:p.Pro252=
NM_012461.2:c.756T>C	NP_036593.2:p.Pro252=
XM_005267528.2:c.756T>C	XP_005267585.1:p.Pro252=
XM_005267529.2:c.651T>C	XP_005267586.1:p.Pro217=
NM_001099274.2:c.756T>C	NP_001092744.1:p.Pro252=
NM_001363668.1:c.651T>C	NP_001350597.1:p.Pro217=
NM_012461.3:c.756T>C	NP_036593.2:p.Pro252=
XM_011536642.2:c.*136T>C	XP_011534944.1:n.*136T>C
XM_017021216.2:c.114T>C	XP_016876705.1:p.Pro38=
XM_017021217.1:c.114T>C	XP_016876706.1:p.Pro38=
NM_001099274.3:c.756T>C MANE Select	NP_001092744.1:p.Pro252=
NM_001363668.2:c.651T>C	NP_001350597.1:p.Pro217=