Canonical Allele Identifier: CA389222679

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709492A>G (hg19) ; chr14:g.24240286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240286A>G , CM000676.2:g.24240286A>G	GRCh38
NC_000014.8:g.24709492A>G , CM000676.1:g.24709492A>G	GRCh37
NC_000014.7:g.23779332A>G	NCBI36
NG_016650.1:g.7389T>C
NG_054634.1:g.12870A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1497T>C
ENST00000557921.3:c.*129T>C	ENSP00000453157.3:n.*129T>C
ENST00000699682.1:n.1584T>C
ENST00000699683.1:n.1634T>C
ENST00000699684.1:c.*787T>C	ENSP00000514523.1:n.*787T>C
ENST00000699685.1:n.1398T>C
ENST00000699686.1:c.*129T>C	ENSP00000514524.1:n.*129T>C
ENST00000699687.1:c.*129T>C	ENSP00000514525.1:n.*129T>C
ENST00000699688.1:n.1394T>C
ENST00000699689.1:n.1750T>C
ENST00000699690.1:n.1947T>C
ENST00000699691.1:n.2091T>C
ENST00000699692.1:n.45T>C
ENST00000699693.1:n.1523T>C
ENST00000699694.1:n.1853T>C
ENST00000699695.1:c.*478T>C	ENSP00000514526.1:n.*478T>C
ENST00000699696.1:n.1497T>C
ENST00000699697.1:c.1106T>C	ENSP00000514527.1:p.Leu369Ser
ENST00000699698.1:n.1027T>C
ENST00000699699.1:n.1518T>C
ENST00000699700.1:n.1641T>C
ENST00000699701.1:c.*574T>C	ENSP00000514528.1:n.*574T>C
ENST00000267415.12:c.1106T>C MANE Select	ENSP00000267415.7:p.Leu369Ser
ENST00000646753.1:c.1001T>C	ENSP00000494065.1:p.Leu334Ser
ENST00000267415.11:c.1106T>C	ENSP00000267415.7:p.Leu369Ser
ENST00000399423.8:c.*129T>C	ENSP00000382350.4:n.*129T>C
ENST00000557915.1:n.313T>C
ENST00000558566.1:c.*566T>C	ENSP00000453025.1:n.*566T>C
ENST00000559969.5:c.952T>C
ENST00000560019.5:c.101T>C	ENSP00000453113.1:p.Leu34Ser
ENST00000626689.2:c.*478T>C	ENSP00000486681.1:n.*478T>C
NM_001099274.1:c.1106T>C	NP_001092744.1:p.Leu369Ser
NM_012461.2:c.*129T>C	NP_036593.2:n.*129T>C
XM_005267528.2:c.1106T>C	XP_005267585.1:p.Leu369Ser
XM_005267529.2:c.1001T>C	XP_005267586.1:p.Leu334Ser
NM_001099274.2:c.1106T>C	NP_001092744.1:p.Leu369Ser
NM_001363668.1:c.1001T>C	NP_001350597.1:p.Leu334Ser
NM_012461.3:c.*129T>C	NP_036593.2:n.*129T>C
XM_011536642.2:c.*574T>C	XP_011534944.1:n.*574T>C
XM_017021216.2:c.464T>C	XP_016876705.1:p.Leu155Ser
XM_017021217.1:c.464T>C	XP_016876706.1:p.Leu155Ser
NM_001099274.3:c.1106T>C MANE Select	NP_001092744.1:p.Leu369Ser
NM_001363668.2:c.1001T>C	NP_001350597.1:p.Leu334Ser