Canonical Allele Identifier: CA389226704

Gene: TINF2

Linked Data

• dbSNP Id: rs2040557652
• MyVariant Identifiers: chr14:g.24709937G>C (hg19) ; chr14:g.24240731G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240731G>C , CM000676.2:g.24240731G>C	GRCh38
NC_000014.8:g.24709937G>C , CM000676.1:g.24709937G>C	GRCh37
NC_000014.7:g.23779777G>C	NCBI36
NG_016650.1:g.6944C>G
NG_054634.1:g.13315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1052C>G
ENST00000557921.3:c.641C>G	ENSP00000453157.3:p.Pro214Arg
ENST00000699682.1:n.1139C>G
ENST00000699683.1:n.1189C>G
ENST00000699684.1:c.*342C>G	ENSP00000514523.1:n.*342C>G
ENST00000699685.1:n.953C>G
ENST00000699686.1:c.542C>G	ENSP00000514524.1:p.Pro181Arg
ENST00000699687.1:c.644C>G	ENSP00000514525.1:p.Pro215Arg
ENST00000699688.1:n.949C>G
ENST00000699689.1:n.1305C>G
ENST00000699690.1:n.1502C>G
ENST00000699691.1:n.1646C>G
ENST00000699693.1:n.1166C>G
ENST00000699694.1:n.1408C>G
ENST00000699695.1:c.*121C>G	ENSP00000514526.1:n.*121C>G
ENST00000699696.1:n.1052C>G
ENST00000699697.1:c.749C>G	ENSP00000514527.1:p.Pro250Arg
ENST00000699698.1:n.670C>G
ENST00000699699.1:n.1073C>G
ENST00000699700.1:n.1196C>G
ENST00000699701.1:c.*129C>G	ENSP00000514528.1:n.*129C>G
ENST00000267415.12:c.749C>G MANE Select	ENSP00000267415.7:p.Pro250Arg
ENST00000557921.2:c.641C>G	ENSP00000453157.2:p.Pro214Arg
ENST00000646753.1:c.644C>G	ENSP00000494065.1:p.Pro215Arg
ENST00000267415.11:c.749C>G	ENSP00000267415.7:p.Pro250Arg
ENST00000399423.8:c.749C>G	ENSP00000382350.4:p.Pro250Arg
ENST00000558476.5:c.311C>G	ENSP00000452724.1:p.Pro104Arg
ENST00000558566.1:c.*121C>G	ENSP00000453025.1:n.*121C>G
ENST00000559019.1:c.*121C>G	ENSP00000453675.1:n.*121C>G
ENST00000559549.1:n.475C>G
ENST00000559969.5:c.705C>G
ENST00000626689.2:c.*121C>G	ENSP00000486681.1:n.*121C>G
NM_001099274.1:c.749C>G	NP_001092744.1:p.Pro250Arg
NM_012461.2:c.749C>G	NP_036593.2:p.Pro250Arg
XM_005267528.2:c.749C>G	XP_005267585.1:p.Pro250Arg
XM_005267529.2:c.644C>G	XP_005267586.1:p.Pro215Arg
NM_001099274.2:c.749C>G	NP_001092744.1:p.Pro250Arg
NM_001363668.1:c.644C>G	NP_001350597.1:p.Pro215Arg
NM_012461.3:c.749C>G	NP_036593.2:p.Pro250Arg
XM_011536642.2:c.*129C>G	XP_011534944.1:n.*129C>G
XM_017021216.2:c.107C>G	XP_016876705.1:p.Pro36Arg
XM_017021217.1:c.107C>G	XP_016876706.1:p.Pro36Arg
NM_001099274.3:c.749C>G MANE Select	NP_001092744.1:p.Pro250Arg
NM_001363668.2:c.644C>G	NP_001350597.1:p.Pro215Arg