Canonical Allele Identifier: CA389226230

Gene: TINF2

Linked Data

• gnomAD v3: 14-24240680-C-T
• gnomAD v4: 14-24240680-C-T
• MyVariant Identifiers: chr14:g.24709886C>T (hg19) ; chr14:g.24240680C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240680C>T , CM000676.2:g.24240680C>T	GRCh38
NC_000014.8:g.24709886C>T , CM000676.1:g.24709886C>T	GRCh37
NC_000014.7:g.23779726C>T	NCBI36
NG_016650.1:g.6995G>A
NG_054634.1:g.13264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1103G>A
ENST00000557921.3:c.692G>A	ENSP00000453157.3:p.Arg231Lys
ENST00000699682.1:n.1190G>A
ENST00000699683.1:n.1240G>A
ENST00000699684.1:c.*393G>A	ENSP00000514523.1:n.*393G>A
ENST00000699685.1:n.1004G>A
ENST00000699686.1:c.593G>A	ENSP00000514524.1:p.Arg198Lys
ENST00000699687.1:c.695G>A	ENSP00000514525.1:p.Arg232Lys
ENST00000699688.1:n.1000G>A
ENST00000699689.1:n.1356G>A
ENST00000699690.1:n.1553G>A
ENST00000699691.1:n.1697G>A
ENST00000699693.1:n.1217G>A
ENST00000699694.1:n.1459G>A
ENST00000699695.1:c.*172G>A	ENSP00000514526.1:n.*172G>A
ENST00000699696.1:n.1103G>A
ENST00000699697.1:c.800G>A	ENSP00000514527.1:p.Arg267Lys
ENST00000699698.1:n.721G>A
ENST00000699699.1:n.1124G>A
ENST00000699700.1:n.1247G>A
ENST00000699701.1:c.*180G>A	ENSP00000514528.1:n.*180G>A
ENST00000267415.12:c.800G>A MANE Select	ENSP00000267415.7:p.Arg267Lys
ENST00000557921.2:c.692G>A	ENSP00000453157.2:p.Arg231Lys
ENST00000646753.1:c.695G>A	ENSP00000494065.1:p.Arg232Lys
ENST00000267415.11:c.800G>A	ENSP00000267415.7:p.Arg267Lys
ENST00000399423.8:c.800G>A	ENSP00000382350.4:p.Arg267Lys
ENST00000558476.5:c.362G>A	ENSP00000452724.1:p.Arg121Lys
ENST00000558566.1:c.*172G>A	ENSP00000453025.1:n.*172G>A
ENST00000559019.1:c.*172G>A	ENSP00000453675.1:n.*172G>A
ENST00000559549.1:n.526G>A
ENST00000559969.5:c.756G>A
ENST00000626689.2:c.*172G>A	ENSP00000486681.1:n.*172G>A
NM_001099274.1:c.800G>A	NP_001092744.1:p.Arg267Lys
NM_012461.2:c.800G>A	NP_036593.2:p.Arg267Lys
XM_005267528.2:c.800G>A	XP_005267585.1:p.Arg267Lys
XM_005267529.2:c.695G>A	XP_005267586.1:p.Arg232Lys
NM_001099274.2:c.800G>A	NP_001092744.1:p.Arg267Lys
NM_001363668.1:c.695G>A	NP_001350597.1:p.Arg232Lys
NM_012461.3:c.800G>A	NP_036593.2:p.Arg267Lys
XM_011536642.2:c.*180G>A	XP_011534944.1:n.*180G>A
XM_017021216.2:c.158G>A	XP_016876705.1:p.Arg53Lys
XM_017021217.1:c.158G>A	XP_016876706.1:p.Arg53Lys
NM_001099274.3:c.800G>A MANE Select	NP_001092744.1:p.Arg267Lys
NM_001363668.2:c.695G>A	NP_001350597.1:p.Arg232Lys