Canonical Allele Identifier: CA389222667

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709491T>G (hg19) ; chr14:g.24240285T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240285T>G , CM000676.2:g.24240285T>G	GRCh38
NC_000014.8:g.24709491T>G , CM000676.1:g.24709491T>G	GRCh37
NC_000014.7:g.23779331T>G	NCBI36
NG_016650.1:g.7390A>C
NG_054634.1:g.12869T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1498A>C
ENST00000557921.3:c.*130A>C	ENSP00000453157.3:n.*130A>C
ENST00000699682.1:n.1585A>C
ENST00000699683.1:n.1635A>C
ENST00000699684.1:c.*788A>C	ENSP00000514523.1:n.*788A>C
ENST00000699685.1:n.1399A>C
ENST00000699686.1:c.*130A>C	ENSP00000514524.1:n.*130A>C
ENST00000699687.1:c.*130A>C	ENSP00000514525.1:n.*130A>C
ENST00000699688.1:n.1395A>C
ENST00000699689.1:n.1751A>C
ENST00000699690.1:n.1948A>C
ENST00000699691.1:n.2092A>C
ENST00000699692.1:n.46A>C
ENST00000699693.1:n.1524A>C
ENST00000699694.1:n.1854A>C
ENST00000699695.1:c.*479A>C	ENSP00000514526.1:n.*479A>C
ENST00000699696.1:n.1498A>C
ENST00000699697.1:c.1107A>C	ENSP00000514527.1:p.Leu369Phe
ENST00000699698.1:n.1028A>C
ENST00000699699.1:n.1519A>C
ENST00000699700.1:n.1642A>C
ENST00000699701.1:c.*575A>C	ENSP00000514528.1:n.*575A>C
ENST00000267415.12:c.1107A>C MANE Select	ENSP00000267415.7:p.Leu369Phe
ENST00000646753.1:c.1002A>C	ENSP00000494065.1:p.Leu334Phe
ENST00000267415.11:c.1107A>C	ENSP00000267415.7:p.Leu369Phe
ENST00000399423.8:c.*130A>C	ENSP00000382350.4:n.*130A>C
ENST00000557915.1:n.314A>C
ENST00000558566.1:c.*567A>C	ENSP00000453025.1:n.*567A>C
ENST00000559969.5:c.953A>C
ENST00000560019.5:c.102A>C	ENSP00000453113.1:p.Leu34Phe
ENST00000626689.2:c.*479A>C	ENSP00000486681.1:n.*479A>C
NM_001099274.1:c.1107A>C	NP_001092744.1:p.Leu369Phe
NM_012461.2:c.*130A>C	NP_036593.2:n.*130A>C
XM_005267528.2:c.1107A>C	XP_005267585.1:p.Leu369Phe
XM_005267529.2:c.1002A>C	XP_005267586.1:p.Leu334Phe
NM_001099274.2:c.1107A>C	NP_001092744.1:p.Leu369Phe
NM_001363668.1:c.1002A>C	NP_001350597.1:p.Leu334Phe
NM_012461.3:c.*130A>C	NP_036593.2:n.*130A>C
XM_011536642.2:c.*575A>C	XP_011534944.1:n.*575A>C
XM_017021216.2:c.465A>C	XP_016876705.1:p.Leu155Phe
XM_017021217.1:c.465A>C	XP_016876706.1:p.Leu155Phe
NM_001099274.3:c.1107A>C MANE Select	NP_001092744.1:p.Leu369Phe
NM_001363668.2:c.1002A>C	NP_001350597.1:p.Leu334Phe