Canonical Allele Identifier: CA389227075

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709977C>A (hg19) ; chr14:g.24240771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240771C>A , CM000676.2:g.24240771C>A	GRCh38
NC_000014.8:g.24709977C>A , CM000676.1:g.24709977C>A	GRCh37
NC_000014.7:g.23779817C>A	NCBI36
NG_016650.1:g.6904G>T
NG_054634.1:g.13355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1012G>T
ENST00000557921.3:c.601G>T	ENSP00000453157.3:p.Gly201Cys
ENST00000699682.1:n.1099G>T
ENST00000699683.1:n.1149G>T
ENST00000699684.1:c.*302G>T	ENSP00000514523.1:n.*302G>T
ENST00000699685.1:n.913G>T
ENST00000699686.1:c.502G>T	ENSP00000514524.1:p.Gly168Cys
ENST00000699687.1:c.604G>T	ENSP00000514525.1:p.Gly202Cys
ENST00000699688.1:n.909G>T
ENST00000699689.1:n.1265G>T
ENST00000699690.1:n.1462G>T
ENST00000699691.1:n.1606G>T
ENST00000699693.1:n.1126G>T
ENST00000699694.1:n.1368G>T
ENST00000699695.1:c.*81G>T	ENSP00000514526.1:n.*81G>T
ENST00000699696.1:n.1012G>T
ENST00000699697.1:c.709G>T	ENSP00000514527.1:p.Gly237Cys
ENST00000699698.1:n.630G>T
ENST00000699699.1:n.1033G>T
ENST00000699700.1:n.1156G>T
ENST00000699701.1:c.*89G>T	ENSP00000514528.1:n.*89G>T
ENST00000267415.12:c.709G>T MANE Select	ENSP00000267415.7:p.Gly237Cys
ENST00000557921.2:c.601G>T	ENSP00000453157.2:p.Gly201Cys
ENST00000646753.1:c.604G>T	ENSP00000494065.1:p.Gly202Cys
ENST00000267415.11:c.709G>T	ENSP00000267415.7:p.Gly237Cys
ENST00000399423.8:c.709G>T	ENSP00000382350.4:p.Gly237Cys
ENST00000558476.5:c.271G>T	ENSP00000452724.1:p.Gly91Cys
ENST00000558566.1:c.*81G>T	ENSP00000453025.1:n.*81G>T
ENST00000559019.1:c.*81G>T	ENSP00000453675.1:n.*81G>T
ENST00000559549.1:n.435G>T
ENST00000559969.5:c.665G>T
ENST00000626689.2:c.*81G>T	ENSP00000486681.1:n.*81G>T
NM_001099274.1:c.709G>T	NP_001092744.1:p.Gly237Cys
NM_012461.2:c.709G>T	NP_036593.2:p.Gly237Cys
XM_005267528.2:c.709G>T	XP_005267585.1:p.Gly237Cys
XM_005267529.2:c.604G>T	XP_005267586.1:p.Gly202Cys
NM_001099274.2:c.709G>T	NP_001092744.1:p.Gly237Cys
NM_001363668.1:c.604G>T	NP_001350597.1:p.Gly202Cys
NM_012461.3:c.709G>T	NP_036593.2:p.Gly237Cys
XM_011536642.2:c.*89G>T	XP_011534944.1:n.*89G>T
XM_017021216.2:c.67G>T	XP_016876705.1:p.Gly23Cys
XM_017021217.1:c.67G>T	XP_016876706.1:p.Gly23Cys
NM_001099274.3:c.709G>T MANE Select	NP_001092744.1:p.Gly237Cys
NM_001363668.2:c.604G>T	NP_001350597.1:p.Gly202Cys