Canonical Allele Identifier: CA389224932

Gene: TINF2

Linked Data

• dbSNP Id: rs2040552004
• gnomAD v4: 14-24240578-G-C
• MyVariant Identifiers: chr14:g.24709784G>C (hg19) ; chr14:g.24240578G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240578G>C , CM000676.2:g.24240578G>C	GRCh38
NC_000014.8:g.24709784G>C , CM000676.1:g.24709784G>C	GRCh37
NC_000014.7:g.23779624G>C	NCBI36
NG_016650.1:g.7097C>G
NG_054634.1:g.13162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1205C>G
ENST00000557921.3:c.794C>G	ENSP00000453157.3:p.Ser265Cys
ENST00000699682.1:n.1292C>G
ENST00000699683.1:n.1342C>G
ENST00000699684.1:c.*495C>G	ENSP00000514523.1:n.*495C>G
ENST00000699685.1:n.1106C>G
ENST00000699686.1:c.695C>G	ENSP00000514524.1:p.Ser232Cys
ENST00000699687.1:c.797C>G	ENSP00000514525.1:p.Ser266Cys
ENST00000699688.1:n.1102C>G
ENST00000699689.1:n.1458C>G
ENST00000699690.1:n.1655C>G
ENST00000699691.1:n.1799C>G
ENST00000699693.1:n.1319C>G
ENST00000699694.1:n.1561C>G
ENST00000699695.1:c.*274C>G	ENSP00000514526.1:n.*274C>G
ENST00000699696.1:n.1205C>G
ENST00000699697.1:c.902C>G	ENSP00000514527.1:p.Ser301Cys
ENST00000699698.1:n.823C>G
ENST00000699699.1:n.1226C>G
ENST00000699700.1:n.1349C>G
ENST00000699701.1:c.*282C>G	ENSP00000514528.1:n.*282C>G
ENST00000267415.12:c.902C>G MANE Select	ENSP00000267415.7:p.Ser301Cys
ENST00000557921.2:c.794C>G	ENSP00000453157.2:p.Ser265Cys
ENST00000646753.1:c.797C>G	ENSP00000494065.1:p.Ser266Cys
ENST00000267415.11:c.902C>G	ENSP00000267415.7:p.Ser301Cys
ENST00000399423.8:c.902C>G	ENSP00000382350.4:p.Ser301Cys
ENST00000557915.1:n.21C>G
ENST00000558566.1:c.*274C>G	ENSP00000453025.1:n.*274C>G
ENST00000559019.1:c.*274C>G	ENSP00000453675.1:n.*274C>G
ENST00000559969.5:c.758-98C>G
ENST00000626689.2:c.*274C>G	ENSP00000486681.1:n.*274C>G
NM_001099274.1:c.902C>G	NP_001092744.1:p.Ser301Cys
NM_012461.2:c.902C>G	NP_036593.2:p.Ser301Cys
XM_005267528.2:c.902C>G	XP_005267585.1:p.Ser301Cys
XM_005267529.2:c.797C>G	XP_005267586.1:p.Ser266Cys
NM_001099274.2:c.902C>G	NP_001092744.1:p.Ser301Cys
NM_001363668.1:c.797C>G	NP_001350597.1:p.Ser266Cys
NM_012461.3:c.902C>G	NP_036593.2:p.Ser301Cys
XM_011536642.2:c.*282C>G	XP_011534944.1:n.*282C>G
XM_017021216.2:c.260C>G	XP_016876705.1:p.Ser87Cys
XM_017021217.1:c.260C>G	XP_016876706.1:p.Ser87Cys
NM_001099274.3:c.902C>G MANE Select	NP_001092744.1:p.Ser301Cys
NM_001363668.2:c.797C>G	NP_001350597.1:p.Ser266Cys