Canonical Allele Identifier: CA389226861

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709953A>C (hg19) ; chr14:g.24240747A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240747A>C , CM000676.2:g.24240747A>C	GRCh38
NC_000014.8:g.24709953A>C , CM000676.1:g.24709953A>C	GRCh37
NC_000014.7:g.23779793A>C	NCBI36
NG_016650.1:g.6928T>G
NG_054634.1:g.13331A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1036T>G
ENST00000557921.3:c.625T>G	ENSP00000453157.3:p.Ser209Ala
ENST00000699682.1:n.1123T>G
ENST00000699683.1:n.1173T>G
ENST00000699684.1:c.*326T>G	ENSP00000514523.1:n.*326T>G
ENST00000699685.1:n.937T>G
ENST00000699686.1:c.526T>G	ENSP00000514524.1:p.Ser176Ala
ENST00000699687.1:c.628T>G	ENSP00000514525.1:p.Ser210Ala
ENST00000699688.1:n.933T>G
ENST00000699689.1:n.1289T>G
ENST00000699690.1:n.1486T>G
ENST00000699691.1:n.1630T>G
ENST00000699693.1:n.1150T>G
ENST00000699694.1:n.1392T>G
ENST00000699695.1:c.*105T>G	ENSP00000514526.1:n.*105T>G
ENST00000699696.1:n.1036T>G
ENST00000699697.1:c.733T>G	ENSP00000514527.1:p.Ser245Ala
ENST00000699698.1:n.654T>G
ENST00000699699.1:n.1057T>G
ENST00000699700.1:n.1180T>G
ENST00000699701.1:c.*113T>G	ENSP00000514528.1:n.*113T>G
ENST00000267415.12:c.733T>G MANE Select	ENSP00000267415.7:p.Ser245Ala
ENST00000557921.2:c.625T>G	ENSP00000453157.2:p.Ser209Ala
ENST00000646753.1:c.628T>G	ENSP00000494065.1:p.Ser210Ala
ENST00000267415.11:c.733T>G	ENSP00000267415.7:p.Ser245Ala
ENST00000399423.8:c.733T>G	ENSP00000382350.4:p.Ser245Ala
ENST00000558476.5:c.295T>G	ENSP00000452724.1:p.Ser99Ala
ENST00000558566.1:c.*105T>G	ENSP00000453025.1:n.*105T>G
ENST00000559019.1:c.*105T>G	ENSP00000453675.1:n.*105T>G
ENST00000559549.1:n.459T>G
ENST00000559969.5:c.689T>G
ENST00000626689.2:c.*105T>G	ENSP00000486681.1:n.*105T>G
NM_001099274.1:c.733T>G	NP_001092744.1:p.Ser245Ala
NM_012461.2:c.733T>G	NP_036593.2:p.Ser245Ala
XM_005267528.2:c.733T>G	XP_005267585.1:p.Ser245Ala
XM_005267529.2:c.628T>G	XP_005267586.1:p.Ser210Ala
NM_001099274.2:c.733T>G	NP_001092744.1:p.Ser245Ala
NM_001363668.1:c.628T>G	NP_001350597.1:p.Ser210Ala
NM_012461.3:c.733T>G	NP_036593.2:p.Ser245Ala
XM_011536642.2:c.*113T>G	XP_011534944.1:n.*113T>G
XM_017021216.2:c.91T>G	XP_016876705.1:p.Ser31Ala
XM_017021217.1:c.91T>G	XP_016876706.1:p.Ser31Ala
NM_001099274.3:c.733T>G MANE Select	NP_001092744.1:p.Ser245Ala
NM_001363668.2:c.628T>G	NP_001350597.1:p.Ser210Ala