Canonical Allele Identifier: CA257880938

Gene: TINF2

Linked Data

• dbSNP Id: rs923041111
• gnomAD v2: 14-24709859-C-G
• gnomAD v3: 14-24240653-C-G
• gnomAD v4: 14-24240653-C-G
• MyVariant Identifiers: chr14:g.24709859C>G (hg19) ; chr14:g.24240653C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1130G>C
ENST00000557921.3:c.719G>C	ENSP00000453157.3:p.Arg240Thr
ENST00000699682.1:n.1217G>C
ENST00000699683.1:n.1267G>C
ENST00000699684.1:c.*420G>C	ENSP00000514523.1:n.*420G>C
ENST00000699685.1:n.1031G>C
ENST00000699686.1:c.620G>C	ENSP00000514524.1:p.Arg207Thr
ENST00000699687.1:c.722G>C	ENSP00000514525.1:p.Arg241Thr
ENST00000699688.1:n.1027G>C
ENST00000699689.1:n.1383G>C
ENST00000699690.1:n.1580G>C
ENST00000699691.1:n.1724G>C
ENST00000699693.1:n.1244G>C
ENST00000699694.1:n.1486G>C
ENST00000699695.1:c.*199G>C	ENSP00000514526.1:n.*199G>C
ENST00000699696.1:n.1130G>C
ENST00000699697.1:c.827G>C	ENSP00000514527.1:p.Arg276Thr
ENST00000699698.1:n.748G>C
ENST00000699699.1:n.1151G>C
ENST00000699700.1:n.1274G>C
ENST00000699701.1:c.*207G>C	ENSP00000514528.1:n.*207G>C
ENST00000267415.12:c.827G>C MANE Select	ENSP00000267415.7:p.Arg276Thr
ENST00000557921.2:c.719G>C	ENSP00000453157.2:p.Arg240Thr
ENST00000646753.1:c.722G>C	ENSP00000494065.1:p.Arg241Thr
ENST00000267415.11:c.827G>C	ENSP00000267415.7:p.Arg276Thr
ENST00000399423.8:c.827G>C	ENSP00000382350.4:p.Arg276Thr
ENST00000558476.5:c.389G>C	ENSP00000452724.1:p.Arg130Thr
ENST00000558566.1:c.*199G>C	ENSP00000453025.1:n.*199G>C
ENST00000559019.1:c.*199G>C	ENSP00000453675.1:n.*199G>C
ENST00000559549.1:n.553G>C
ENST00000559969.5:c.757+26G>C
ENST00000626689.2:c.*199G>C	ENSP00000486681.1:n.*199G>C
NM_001099274.1:c.827G>C	NP_001092744.1:p.Arg276Thr
NM_012461.2:c.827G>C	NP_036593.2:p.Arg276Thr
XM_005267528.2:c.827G>C	XP_005267585.1:p.Arg276Thr
XM_005267529.2:c.722G>C	XP_005267586.1:p.Arg241Thr
NM_001099274.2:c.827G>C	NP_001092744.1:p.Arg276Thr
NM_001363668.1:c.722G>C	NP_001350597.1:p.Arg241Thr
NM_012461.3:c.827G>C	NP_036593.2:p.Arg276Thr
XM_011536642.2:c.*207G>C	XP_011534944.1:n.*207G>C
XM_017021216.2:c.185G>C	XP_016876705.1:p.Arg62Thr
XM_017021217.1:c.185G>C	XP_016876706.1:p.Arg62Thr
NM_001099274.3:c.827G>C MANE Select	NP_001092744.1:p.Arg276Thr
NM_001363668.2:c.722G>C	NP_001350597.1:p.Arg241Thr