Canonical Allele Identifier: CA389225793

Gene: TINF2

Linked Data

• dbSNP Id: rs923041111
• gnomAD v3: 14-24240653-C-T
• gnomAD v4: 14-24240653-C-T
• MyVariant Identifiers: chr14:g.24709859C>T (hg19) ; chr14:g.24240653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240653C>T , CM000676.2:g.24240653C>T	GRCh38
NC_000014.8:g.24709859C>T , CM000676.1:g.24709859C>T	GRCh37
NC_000014.7:g.23779699C>T	NCBI36
NG_016650.1:g.7022G>A
NG_054634.1:g.13237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1130G>A
ENST00000557921.3:c.719G>A	ENSP00000453157.3:p.Arg240Lys
ENST00000699682.1:n.1217G>A
ENST00000699683.1:n.1267G>A
ENST00000699684.1:c.*420G>A	ENSP00000514523.1:n.*420G>A
ENST00000699685.1:n.1031G>A
ENST00000699686.1:c.620G>A	ENSP00000514524.1:p.Arg207Lys
ENST00000699687.1:c.722G>A	ENSP00000514525.1:p.Arg241Lys
ENST00000699688.1:n.1027G>A
ENST00000699689.1:n.1383G>A
ENST00000699690.1:n.1580G>A
ENST00000699691.1:n.1724G>A
ENST00000699693.1:n.1244G>A
ENST00000699694.1:n.1486G>A
ENST00000699695.1:c.*199G>A	ENSP00000514526.1:n.*199G>A
ENST00000699696.1:n.1130G>A
ENST00000699697.1:c.827G>A	ENSP00000514527.1:p.Arg276Lys
ENST00000699698.1:n.748G>A
ENST00000699699.1:n.1151G>A
ENST00000699700.1:n.1274G>A
ENST00000699701.1:c.*207G>A	ENSP00000514528.1:n.*207G>A
ENST00000267415.12:c.827G>A MANE Select	ENSP00000267415.7:p.Arg276Lys
ENST00000557921.2:c.719G>A	ENSP00000453157.2:p.Arg240Lys
ENST00000646753.1:c.722G>A	ENSP00000494065.1:p.Arg241Lys
ENST00000267415.11:c.827G>A	ENSP00000267415.7:p.Arg276Lys
ENST00000399423.8:c.827G>A	ENSP00000382350.4:p.Arg276Lys
ENST00000558476.5:c.389G>A	ENSP00000452724.1:p.Arg130Lys
ENST00000558566.1:c.*199G>A	ENSP00000453025.1:n.*199G>A
ENST00000559019.1:c.*199G>A	ENSP00000453675.1:n.*199G>A
ENST00000559549.1:n.553G>A
ENST00000559969.5:c.757+26G>A
ENST00000626689.2:c.*199G>A	ENSP00000486681.1:n.*199G>A
NM_001099274.1:c.827G>A	NP_001092744.1:p.Arg276Lys
NM_012461.2:c.827G>A	NP_036593.2:p.Arg276Lys
XM_005267528.2:c.827G>A	XP_005267585.1:p.Arg276Lys
XM_005267529.2:c.722G>A	XP_005267586.1:p.Arg241Lys
NM_001099274.2:c.827G>A	NP_001092744.1:p.Arg276Lys
NM_001363668.1:c.722G>A	NP_001350597.1:p.Arg241Lys
NM_012461.3:c.827G>A	NP_036593.2:p.Arg276Lys
XM_011536642.2:c.*207G>A	XP_011534944.1:n.*207G>A
XM_017021216.2:c.185G>A	XP_016876705.1:p.Arg62Lys
XM_017021217.1:c.185G>A	XP_016876706.1:p.Arg62Lys
NM_001099274.3:c.827G>A MANE Select	NP_001092744.1:p.Arg276Lys
NM_001363668.2:c.722G>A	NP_001350597.1:p.Arg241Lys