Canonical Allele Identifier: CA389225328

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709820G>A (hg19) ; chr14:g.24240614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240614G>A , CM000676.2:g.24240614G>A	GRCh38
NC_000014.8:g.24709820G>A , CM000676.1:g.24709820G>A	GRCh37
NC_000014.7:g.23779660G>A	NCBI36
NG_016650.1:g.7061C>T
NG_054634.1:g.13198G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1169C>T
ENST00000557921.3:c.758C>T	ENSP00000453157.3:p.Pro253Leu
ENST00000699682.1:n.1256C>T
ENST00000699683.1:n.1306C>T
ENST00000699684.1:c.*459C>T	ENSP00000514523.1:n.*459C>T
ENST00000699685.1:n.1070C>T
ENST00000699686.1:c.659C>T	ENSP00000514524.1:p.Pro220Leu
ENST00000699687.1:c.761C>T	ENSP00000514525.1:p.Pro254Leu
ENST00000699688.1:n.1066C>T
ENST00000699689.1:n.1422C>T
ENST00000699690.1:n.1619C>T
ENST00000699691.1:n.1763C>T
ENST00000699693.1:n.1283C>T
ENST00000699694.1:n.1525C>T
ENST00000699695.1:c.*238C>T	ENSP00000514526.1:n.*238C>T
ENST00000699696.1:n.1169C>T
ENST00000699697.1:c.866C>T	ENSP00000514527.1:p.Pro289Leu
ENST00000699698.1:n.787C>T
ENST00000699699.1:n.1190C>T
ENST00000699700.1:n.1313C>T
ENST00000699701.1:c.*246C>T	ENSP00000514528.1:n.*246C>T
ENST00000267415.12:c.866C>T MANE Select	ENSP00000267415.7:p.Pro289Leu
ENST00000557921.2:c.758C>T	ENSP00000453157.2:p.Pro253Leu
ENST00000646753.1:c.761C>T	ENSP00000494065.1:p.Pro254Leu
ENST00000267415.11:c.866C>T	ENSP00000267415.7:p.Pro289Leu
ENST00000399423.8:c.866C>T	ENSP00000382350.4:p.Pro289Leu
ENST00000558476.5:c.428C>T	ENSP00000452724.1:p.Pro143Leu
ENST00000558566.1:c.*238C>T	ENSP00000453025.1:n.*238C>T
ENST00000559019.1:c.*238C>T	ENSP00000453675.1:n.*238C>T
ENST00000559549.1:n.592C>T
ENST00000559969.5:c.757+65C>T
ENST00000626689.2:c.*238C>T	ENSP00000486681.1:n.*238C>T
NM_001099274.1:c.866C>T	NP_001092744.1:p.Pro289Leu
NM_012461.2:c.866C>T	NP_036593.2:p.Pro289Leu
XM_005267528.2:c.866C>T	XP_005267585.1:p.Pro289Leu
XM_005267529.2:c.761C>T	XP_005267586.1:p.Pro254Leu
NM_001099274.2:c.866C>T	NP_001092744.1:p.Pro289Leu
NM_001363668.1:c.761C>T	NP_001350597.1:p.Pro254Leu
NM_012461.3:c.866C>T	NP_036593.2:p.Pro289Leu
XM_011536642.2:c.*246C>T	XP_011534944.1:n.*246C>T
XM_017021216.2:c.224C>T	XP_016876705.1:p.Pro75Leu
XM_017021217.1:c.224C>T	XP_016876706.1:p.Pro75Leu
NM_001099274.3:c.866C>T MANE Select	NP_001092744.1:p.Pro289Leu
NM_001363668.2:c.761C>T	NP_001350597.1:p.Pro254Leu