Canonical Allele Identifier: CA389224051

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240500-T-G
• MyVariant Identifiers: chr14:g.24709706T>G (hg19) ; chr14:g.24240500T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240500T>G , CM000676.2:g.24240500T>G	GRCh38
NC_000014.8:g.24709706T>G , CM000676.1:g.24709706T>G	GRCh37
NC_000014.7:g.23779546T>G	NCBI36
NG_016650.1:g.7175A>C
NG_054634.1:g.13084T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1283A>C
ENST00000557921.3:c.872A>C	ENSP00000453157.3:p.Lys291Thr
ENST00000699682.1:n.1370A>C
ENST00000699683.1:n.1420A>C
ENST00000699684.1:c.*573A>C	ENSP00000514523.1:n.*573A>C
ENST00000699685.1:n.1184A>C
ENST00000699686.1:c.773A>C	ENSP00000514524.1:p.Lys258Thr
ENST00000699687.1:c.875A>C	ENSP00000514525.1:p.Lys292Thr
ENST00000699688.1:n.1180A>C
ENST00000699689.1:n.1536A>C
ENST00000699690.1:n.1733A>C
ENST00000699691.1:n.1877A>C
ENST00000699693.1:n.1397A>C
ENST00000699694.1:n.1639A>C
ENST00000699695.1:c.*352A>C	ENSP00000514526.1:n.*352A>C
ENST00000699696.1:n.1283A>C
ENST00000699697.1:c.980A>C	ENSP00000514527.1:p.Lys327Thr
ENST00000699698.1:n.901A>C
ENST00000699699.1:n.1304A>C
ENST00000699700.1:n.1427A>C
ENST00000699701.1:c.*360A>C	ENSP00000514528.1:n.*360A>C
ENST00000267415.12:c.980A>C MANE Select	ENSP00000267415.7:p.Lys327Thr
ENST00000646753.1:c.875A>C	ENSP00000494065.1:p.Lys292Thr
ENST00000267415.11:c.980A>C	ENSP00000267415.7:p.Lys327Thr
ENST00000399423.8:c.980A>C	ENSP00000382350.4:p.Lys327Thr
ENST00000557915.1:n.99A>C
ENST00000558566.1:c.*352A>C	ENSP00000453025.1:n.*352A>C
ENST00000559019.1:c.*352A>C	ENSP00000453675.1:n.*352A>C
ENST00000559969.5:c.758-20A>C
ENST00000626689.2:c.*352A>C	ENSP00000486681.1:n.*352A>C
NM_001099274.1:c.980A>C	NP_001092744.1:p.Lys327Thr
NM_012461.2:c.980A>C	NP_036593.2:p.Lys327Thr
XM_005267528.2:c.980A>C	XP_005267585.1:p.Lys327Thr
XM_005267529.2:c.875A>C	XP_005267586.1:p.Lys292Thr
NM_001099274.2:c.980A>C	NP_001092744.1:p.Lys327Thr
NM_001363668.1:c.875A>C	NP_001350597.1:p.Lys292Thr
NM_012461.3:c.980A>C	NP_036593.2:p.Lys327Thr
XM_011536642.2:c.*360A>C	XP_011534944.1:n.*360A>C
XM_017021216.2:c.338A>C	XP_016876705.1:p.Lys113Thr
XM_017021217.1:c.338A>C	XP_016876706.1:p.Lys113Thr
NM_001099274.3:c.980A>C MANE Select	NP_001092744.1:p.Lys327Thr
NM_001363668.2:c.875A>C	NP_001350597.1:p.Lys292Thr