Canonical Allele Identifier: CA389222415

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709469C>T (hg19) ; chr14:g.24240263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240263C>T , CM000676.2:g.24240263C>T	GRCh38
NC_000014.8:g.24709469C>T , CM000676.1:g.24709469C>T	GRCh37
NC_000014.7:g.23779309C>T	NCBI36
NG_016650.1:g.7412G>A
NG_054634.1:g.12847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520G>A
ENST00000557921.3:c.*152G>A	ENSP00000453157.3:n.*152G>A
ENST00000699682.1:n.1607G>A
ENST00000699683.1:n.1657G>A
ENST00000699684.1:c.*810G>A	ENSP00000514523.1:n.*810G>A
ENST00000699685.1:n.1421G>A
ENST00000699686.1:c.*152G>A	ENSP00000514524.1:n.*152G>A
ENST00000699687.1:c.*152G>A	ENSP00000514525.1:n.*152G>A
ENST00000699688.1:n.1417G>A
ENST00000699689.1:n.1773G>A
ENST00000699690.1:n.1970G>A
ENST00000699691.1:n.2114G>A
ENST00000699692.1:n.68G>A
ENST00000699693.1:n.1546G>A
ENST00000699694.1:n.1876G>A
ENST00000699695.1:c.*501G>A	ENSP00000514526.1:n.*501G>A
ENST00000699696.1:n.1520G>A
ENST00000699697.1:c.1129G>A	ENSP00000514527.1:p.Gly377Ser
ENST00000699698.1:n.1050G>A
ENST00000699699.1:n.1541G>A
ENST00000699700.1:n.1664G>A
ENST00000699701.1:c.*597G>A	ENSP00000514528.1:n.*597G>A
ENST00000267415.12:c.1129G>A MANE Select	ENSP00000267415.7:p.Val377Met
ENST00000646753.1:c.1024G>A	ENSP00000494065.1:p.Val342Met
ENST00000267415.11:c.1129G>A	ENSP00000267415.7:p.Val377Met
ENST00000399423.8:c.*152G>A	ENSP00000382350.4:n.*152G>A
ENST00000557915.1:n.336G>A
ENST00000558566.1:c.*589G>A	ENSP00000453025.1:n.*589G>A
ENST00000559969.5:c.975G>A
ENST00000560019.5:c.124G>A	ENSP00000453113.1:p.Val42Met
ENST00000626689.2:c.*501G>A	ENSP00000486681.1:n.*501G>A
NM_001099274.1:c.1129G>A	NP_001092744.1:p.Val377Met
NM_012461.2:c.*152G>A	NP_036593.2:n.*152G>A
XM_005267528.2:c.1129G>A	XP_005267585.1:p.Val377Met
XM_005267529.2:c.1024G>A	XP_005267586.1:p.Val342Met
NM_001099274.2:c.1129G>A	NP_001092744.1:p.Val377Met
NM_001363668.1:c.1024G>A	NP_001350597.1:p.Val342Met
NM_012461.3:c.*152G>A	NP_036593.2:n.*152G>A
XM_011536642.2:c.*597G>A	XP_011534944.1:n.*597G>A
XM_017021216.2:c.487G>A	XP_016876705.1:p.Val163Met
XM_017021217.1:c.487G>A	XP_016876706.1:p.Val163Met
NM_001099274.3:c.1129G>A MANE Select	NP_001092744.1:p.Val377Met
NM_001363668.2:c.1024G>A	NP_001350597.1:p.Val342Met