Canonical Allele Identifier: CA389222946

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709522C>A (hg19) ; chr14:g.24240316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240316C>A , CM000676.2:g.24240316C>A	GRCh38
NC_000014.8:g.24709522C>A , CM000676.1:g.24709522C>A	GRCh37
NC_000014.7:g.23779362C>A	NCBI36
NG_016650.1:g.7359G>T
NG_054634.1:g.12900C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1467G>T
ENST00000557921.3:c.*99G>T	ENSP00000453157.3:n.*99G>T
ENST00000699682.1:n.1554G>T
ENST00000699683.1:n.1604G>T
ENST00000699684.1:c.*757G>T	ENSP00000514523.1:n.*757G>T
ENST00000699685.1:n.1368G>T
ENST00000699686.1:c.*99G>T	ENSP00000514524.1:n.*99G>T
ENST00000699687.1:c.*99G>T	ENSP00000514525.1:n.*99G>T
ENST00000699688.1:n.1364G>T
ENST00000699689.1:n.1720G>T
ENST00000699690.1:n.1917G>T
ENST00000699691.1:n.2061G>T
ENST00000699692.1:n.15G>T
ENST00000699693.1:n.1493G>T
ENST00000699694.1:n.1823G>T
ENST00000699695.1:c.*448G>T	ENSP00000514526.1:n.*448G>T
ENST00000699696.1:n.1467G>T
ENST00000699697.1:c.1076G>T	ENSP00000514527.1:p.Cys359Phe
ENST00000699698.1:n.997G>T
ENST00000699699.1:n.1488G>T
ENST00000699700.1:n.1611G>T
ENST00000699701.1:c.*544G>T	ENSP00000514528.1:n.*544G>T
ENST00000267415.12:c.1076G>T MANE Select	ENSP00000267415.7:p.Cys359Phe
ENST00000646753.1:c.971G>T	ENSP00000494065.1:p.Cys324Phe
ENST00000267415.11:c.1076G>T	ENSP00000267415.7:p.Cys359Phe
ENST00000399423.8:c.*99G>T	ENSP00000382350.4:n.*99G>T
ENST00000557915.1:n.283G>T
ENST00000558566.1:c.*536G>T	ENSP00000453025.1:n.*536G>T
ENST00000559969.5:c.922G>T
ENST00000560019.5:c.71G>T	ENSP00000453113.1:p.Cys24Phe
ENST00000626689.2:c.*448G>T	ENSP00000486681.1:n.*448G>T
NM_001099274.1:c.1076G>T	NP_001092744.1:p.Cys359Phe
NM_012461.2:c.*99G>T	NP_036593.2:n.*99G>T
XM_005267528.2:c.1076G>T	XP_005267585.1:p.Cys359Phe
XM_005267529.2:c.971G>T	XP_005267586.1:p.Cys324Phe
NM_001099274.2:c.1076G>T	NP_001092744.1:p.Cys359Phe
NM_001363668.1:c.971G>T	NP_001350597.1:p.Cys324Phe
NM_012461.3:c.*99G>T	NP_036593.2:n.*99G>T
XM_011536642.2:c.*544G>T	XP_011534944.1:n.*544G>T
XM_017021216.2:c.434G>T	XP_016876705.1:p.Cys145Phe
XM_017021217.1:c.434G>T	XP_016876706.1:p.Cys145Phe
NM_001099274.3:c.1076G>T MANE Select	NP_001092744.1:p.Cys359Phe
NM_001363668.2:c.971G>T	NP_001350597.1:p.Cys324Phe