Canonical Allele Identifier: CA389226332

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709899G>T (hg19) ; chr14:g.24240693G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240693G>T , CM000676.2:g.24240693G>T	GRCh38
NC_000014.8:g.24709899G>T , CM000676.1:g.24709899G>T	GRCh37
NC_000014.7:g.23779739G>T	NCBI36
NG_016650.1:g.6982C>A
NG_054634.1:g.13277G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1090C>A
ENST00000557921.3:c.679C>A	ENSP00000453157.3:p.Leu227Ile
ENST00000699682.1:n.1177C>A
ENST00000699683.1:n.1227C>A
ENST00000699684.1:c.*380C>A	ENSP00000514523.1:n.*380C>A
ENST00000699685.1:n.991C>A
ENST00000699686.1:c.580C>A	ENSP00000514524.1:p.Leu194Ile
ENST00000699687.1:c.682C>A	ENSP00000514525.1:p.Leu228Ile
ENST00000699688.1:n.987C>A
ENST00000699689.1:n.1343C>A
ENST00000699690.1:n.1540C>A
ENST00000699691.1:n.1684C>A
ENST00000699693.1:n.1204C>A
ENST00000699694.1:n.1446C>A
ENST00000699695.1:c.*159C>A	ENSP00000514526.1:n.*159C>A
ENST00000699696.1:n.1090C>A
ENST00000699697.1:c.787C>A	ENSP00000514527.1:p.Leu263Ile
ENST00000699698.1:n.708C>A
ENST00000699699.1:n.1111C>A
ENST00000699700.1:n.1234C>A
ENST00000699701.1:c.*167C>A	ENSP00000514528.1:n.*167C>A
ENST00000267415.12:c.787C>A MANE Select	ENSP00000267415.7:p.Leu263Ile
ENST00000557921.2:c.679C>A	ENSP00000453157.2:p.Leu227Ile
ENST00000646753.1:c.682C>A	ENSP00000494065.1:p.Leu228Ile
ENST00000267415.11:c.787C>A	ENSP00000267415.7:p.Leu263Ile
ENST00000399423.8:c.787C>A	ENSP00000382350.4:p.Leu263Ile
ENST00000558476.5:c.349C>A	ENSP00000452724.1:p.Leu117Ile
ENST00000558566.1:c.*159C>A	ENSP00000453025.1:n.*159C>A
ENST00000559019.1:c.*159C>A	ENSP00000453675.1:n.*159C>A
ENST00000559549.1:n.513C>A
ENST00000559969.5:c.743C>A
ENST00000626689.2:c.*159C>A	ENSP00000486681.1:n.*159C>A
NM_001099274.1:c.787C>A	NP_001092744.1:p.Leu263Ile
NM_012461.2:c.787C>A	NP_036593.2:p.Leu263Ile
XM_005267528.2:c.787C>A	XP_005267585.1:p.Leu263Ile
XM_005267529.2:c.682C>A	XP_005267586.1:p.Leu228Ile
NM_001099274.2:c.787C>A	NP_001092744.1:p.Leu263Ile
NM_001363668.1:c.682C>A	NP_001350597.1:p.Leu228Ile
NM_012461.3:c.787C>A	NP_036593.2:p.Leu263Ile
XM_011536642.2:c.*167C>A	XP_011534944.1:n.*167C>A
XM_017021216.2:c.145C>A	XP_016876705.1:p.Leu49Ile
XM_017021217.1:c.145C>A	XP_016876706.1:p.Leu49Ile
NM_001099274.3:c.787C>A MANE Select	NP_001092744.1:p.Leu263Ile
NM_001363668.2:c.682C>A	NP_001350597.1:p.Leu228Ile