Canonical Allele Identifier: CA389224066

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240503-C-G
• MyVariant Identifiers: chr14:g.24709709C>G (hg19) ; chr14:g.24240503C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240503C>G , CM000676.2:g.24240503C>G	GRCh38
NC_000014.8:g.24709709C>G , CM000676.1:g.24709709C>G	GRCh37
NC_000014.7:g.23779549C>G	NCBI36
NG_016650.1:g.7172G>C
NG_054634.1:g.13087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1280G>C
ENST00000557921.3:c.869G>C	ENSP00000453157.3:p.Gly290Ala
ENST00000699682.1:n.1367G>C
ENST00000699683.1:n.1417G>C
ENST00000699684.1:c.*570G>C	ENSP00000514523.1:n.*570G>C
ENST00000699685.1:n.1181G>C
ENST00000699686.1:c.770G>C	ENSP00000514524.1:p.Gly257Ala
ENST00000699687.1:c.872G>C	ENSP00000514525.1:p.Gly291Ala
ENST00000699688.1:n.1177G>C
ENST00000699689.1:n.1533G>C
ENST00000699690.1:n.1730G>C
ENST00000699691.1:n.1874G>C
ENST00000699693.1:n.1394G>C
ENST00000699694.1:n.1636G>C
ENST00000699695.1:c.*349G>C	ENSP00000514526.1:n.*349G>C
ENST00000699696.1:n.1280G>C
ENST00000699697.1:c.977G>C	ENSP00000514527.1:p.Gly326Ala
ENST00000699698.1:n.898G>C
ENST00000699699.1:n.1301G>C
ENST00000699700.1:n.1424G>C
ENST00000699701.1:c.*357G>C	ENSP00000514528.1:n.*357G>C
ENST00000267415.12:c.977G>C MANE Select	ENSP00000267415.7:p.Gly326Ala
ENST00000557921.2:c.869G>C	ENSP00000453157.2:p.Gly290Ala
ENST00000646753.1:c.872G>C	ENSP00000494065.1:p.Gly291Ala
ENST00000267415.11:c.977G>C	ENSP00000267415.7:p.Gly326Ala
ENST00000399423.8:c.977G>C	ENSP00000382350.4:p.Gly326Ala
ENST00000557915.1:n.96G>C
ENST00000558566.1:c.*349G>C	ENSP00000453025.1:n.*349G>C
ENST00000559019.1:c.*349G>C	ENSP00000453675.1:n.*349G>C
ENST00000559969.5:c.758-23G>C
ENST00000626689.2:c.*349G>C	ENSP00000486681.1:n.*349G>C
NM_001099274.1:c.977G>C	NP_001092744.1:p.Gly326Ala
NM_012461.2:c.977G>C	NP_036593.2:p.Gly326Ala
XM_005267528.2:c.977G>C	XP_005267585.1:p.Gly326Ala
XM_005267529.2:c.872G>C	XP_005267586.1:p.Gly291Ala
NM_001099274.2:c.977G>C	NP_001092744.1:p.Gly326Ala
NM_001363668.1:c.872G>C	NP_001350597.1:p.Gly291Ala
NM_012461.3:c.977G>C	NP_036593.2:p.Gly326Ala
XM_011536642.2:c.*357G>C	XP_011534944.1:n.*357G>C
XM_017021216.2:c.335G>C	XP_016876705.1:p.Gly112Ala
XM_017021217.1:c.335G>C	XP_016876706.1:p.Gly112Ala
NM_001099274.3:c.977G>C MANE Select	NP_001092744.1:p.Gly326Ala
NM_001363668.2:c.872G>C	NP_001350597.1:p.Gly291Ala