Canonical Allele Identifier: CA389222564

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709480G>T (hg19) ; chr14:g.24240274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240274G>T , CM000676.2:g.24240274G>T	GRCh38
NC_000014.8:g.24709480G>T , CM000676.1:g.24709480G>T	GRCh37
NC_000014.7:g.23779320G>T	NCBI36
NG_016650.1:g.7401C>A
NG_054634.1:g.12858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1509C>A
ENST00000557921.3:c.*141C>A	ENSP00000453157.3:n.*141C>A
ENST00000699682.1:n.1596C>A
ENST00000699683.1:n.1646C>A
ENST00000699684.1:c.*799C>A	ENSP00000514523.1:n.*799C>A
ENST00000699685.1:n.1410C>A
ENST00000699686.1:c.*141C>A	ENSP00000514524.1:n.*141C>A
ENST00000699687.1:c.*141C>A	ENSP00000514525.1:n.*141C>A
ENST00000699688.1:n.1406C>A
ENST00000699689.1:n.1762C>A
ENST00000699690.1:n.1959C>A
ENST00000699691.1:n.2103C>A
ENST00000699692.1:n.57C>A
ENST00000699693.1:n.1535C>A
ENST00000699694.1:n.1865C>A
ENST00000699695.1:c.*490C>A	ENSP00000514526.1:n.*490C>A
ENST00000699696.1:n.1509C>A
ENST00000699697.1:c.1118C>A	ENSP00000514527.1:p.Ala373Asp
ENST00000699698.1:n.1039C>A
ENST00000699699.1:n.1530C>A
ENST00000699700.1:n.1653C>A
ENST00000699701.1:c.*586C>A	ENSP00000514528.1:n.*586C>A
ENST00000267415.12:c.1118C>A MANE Select	ENSP00000267415.7:p.Ala373Asp
ENST00000646753.1:c.1013C>A	ENSP00000494065.1:p.Ala338Asp
ENST00000267415.11:c.1118C>A	ENSP00000267415.7:p.Ala373Asp
ENST00000399423.8:c.*141C>A	ENSP00000382350.4:n.*141C>A
ENST00000557915.1:n.325C>A
ENST00000558566.1:c.*578C>A	ENSP00000453025.1:n.*578C>A
ENST00000559969.5:c.964C>A
ENST00000560019.5:c.113C>A	ENSP00000453113.1:p.Ala38Asp
ENST00000626689.2:c.*490C>A	ENSP00000486681.1:n.*490C>A
NM_001099274.1:c.1118C>A	NP_001092744.1:p.Ala373Asp
NM_012461.2:c.*141C>A	NP_036593.2:n.*141C>A
XM_005267528.2:c.1118C>A	XP_005267585.1:p.Ala373Asp
XM_005267529.2:c.1013C>A	XP_005267586.1:p.Ala338Asp
NM_001099274.2:c.1118C>A	NP_001092744.1:p.Ala373Asp
NM_001363668.1:c.1013C>A	NP_001350597.1:p.Ala338Asp
NM_012461.3:c.*141C>A	NP_036593.2:n.*141C>A
XM_011536642.2:c.*586C>A	XP_011534944.1:n.*586C>A
XM_017021216.2:c.476C>A	XP_016876705.1:p.Ala159Asp
XM_017021217.1:c.476C>A	XP_016876706.1:p.Ala159Asp
NM_001099274.3:c.1118C>A MANE Select	NP_001092744.1:p.Ala373Asp
NM_001363668.2:c.1013C>A	NP_001350597.1:p.Ala338Asp