Canonical Allele Identifier: CA389223937

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709697C>A (hg19) ; chr14:g.24240491C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240491C>A , CM000676.2:g.24240491C>A	GRCh38
NC_000014.8:g.24709697C>A , CM000676.1:g.24709697C>A	GRCh37
NC_000014.7:g.23779537C>A	NCBI36
NG_016650.1:g.7184G>T
NG_054634.1:g.13075C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1292G>T
ENST00000557921.3:c.881G>T	ENSP00000453157.3:p.Ser294Ile
ENST00000699682.1:n.1379G>T
ENST00000699683.1:n.1429G>T
ENST00000699684.1:c.*582G>T	ENSP00000514523.1:n.*582G>T
ENST00000699685.1:n.1193G>T
ENST00000699686.1:c.782G>T	ENSP00000514524.1:p.Ser261Ile
ENST00000699687.1:c.884G>T	ENSP00000514525.1:p.Ser295Ile
ENST00000699688.1:n.1189G>T
ENST00000699689.1:n.1545G>T
ENST00000699690.1:n.1742G>T
ENST00000699691.1:n.1886G>T
ENST00000699693.1:n.1406G>T
ENST00000699694.1:n.1648G>T
ENST00000699695.1:c.*361G>T	ENSP00000514526.1:n.*361G>T
ENST00000699696.1:n.1292G>T
ENST00000699697.1:c.989G>T	ENSP00000514527.1:p.Ser330Ile
ENST00000699698.1:n.910G>T
ENST00000699699.1:n.1313G>T
ENST00000699700.1:n.1436G>T
ENST00000699701.1:c.*369G>T	ENSP00000514528.1:n.*369G>T
ENST00000267415.12:c.989G>T MANE Select	ENSP00000267415.7:p.Ser330Ile
ENST00000646753.1:c.884G>T	ENSP00000494065.1:p.Ser295Ile
ENST00000267415.11:c.989G>T	ENSP00000267415.7:p.Ser330Ile
ENST00000399423.8:c.989G>T	ENSP00000382350.4:p.Ser330Ile
ENST00000557915.1:n.108G>T
ENST00000558566.1:c.*361G>T	ENSP00000453025.1:n.*361G>T
ENST00000559019.1:c.*361G>T	ENSP00000453675.1:n.*361G>T
ENST00000559969.5:c.758-11G>T
ENST00000626689.2:c.*361G>T	ENSP00000486681.1:n.*361G>T
NM_001099274.1:c.989G>T	NP_001092744.1:p.Ser330Ile
NM_012461.2:c.989G>T	NP_036593.2:p.Ser330Ile
XM_005267528.2:c.989G>T	XP_005267585.1:p.Ser330Ile
XM_005267529.2:c.884G>T	XP_005267586.1:p.Ser295Ile
NM_001099274.2:c.989G>T	NP_001092744.1:p.Ser330Ile
NM_001363668.1:c.884G>T	NP_001350597.1:p.Ser295Ile
NM_012461.3:c.989G>T	NP_036593.2:p.Ser330Ile
XM_011536642.2:c.*369G>T	XP_011534944.1:n.*369G>T
XM_017021216.2:c.347G>T	XP_016876705.1:p.Ser116Ile
XM_017021217.1:c.347G>T	XP_016876706.1:p.Ser116Ile
NM_001099274.3:c.989G>T MANE Select	NP_001092744.1:p.Ser330Ile
NM_001363668.2:c.884G>T	NP_001350597.1:p.Ser295Ile