Canonical Allele Identifier: CA389225139

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709802G>A (hg19) ; chr14:g.24240596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240596G>A , CM000676.2:g.24240596G>A	GRCh38
NC_000014.8:g.24709802G>A , CM000676.1:g.24709802G>A	GRCh37
NC_000014.7:g.23779642G>A	NCBI36
NG_016650.1:g.7079C>T
NG_054634.1:g.13180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1187C>T
ENST00000557921.3:c.776C>T	ENSP00000453157.3:p.Ser259Leu
ENST00000699682.1:n.1274C>T
ENST00000699683.1:n.1324C>T
ENST00000699684.1:c.*477C>T	ENSP00000514523.1:n.*477C>T
ENST00000699685.1:n.1088C>T
ENST00000699686.1:c.677C>T	ENSP00000514524.1:p.Ser226Leu
ENST00000699687.1:c.779C>T	ENSP00000514525.1:p.Ser260Leu
ENST00000699688.1:n.1084C>T
ENST00000699689.1:n.1440C>T
ENST00000699690.1:n.1637C>T
ENST00000699691.1:n.1781C>T
ENST00000699693.1:n.1301C>T
ENST00000699694.1:n.1543C>T
ENST00000699695.1:c.*256C>T	ENSP00000514526.1:n.*256C>T
ENST00000699696.1:n.1187C>T
ENST00000699697.1:c.884C>T	ENSP00000514527.1:p.Ser295Leu
ENST00000699698.1:n.805C>T
ENST00000699699.1:n.1208C>T
ENST00000699700.1:n.1331C>T
ENST00000699701.1:c.*264C>T	ENSP00000514528.1:n.*264C>T
ENST00000267415.12:c.884C>T MANE Select	ENSP00000267415.7:p.Ser295Leu
ENST00000557921.2:c.776C>T	ENSP00000453157.2:p.Ser259Leu
ENST00000646753.1:c.779C>T	ENSP00000494065.1:p.Ser260Leu
ENST00000267415.11:c.884C>T	ENSP00000267415.7:p.Ser295Leu
ENST00000399423.8:c.884C>T	ENSP00000382350.4:p.Ser295Leu
ENST00000557915.1:n.3C>T
ENST00000558566.1:c.*256C>T	ENSP00000453025.1:n.*256C>T
ENST00000559019.1:c.*256C>T	ENSP00000453675.1:n.*256C>T
ENST00000559549.1:n.610C>T
ENST00000559969.5:c.757+83C>T
ENST00000626689.2:c.*256C>T	ENSP00000486681.1:n.*256C>T
NM_001099274.1:c.884C>T	NP_001092744.1:p.Ser295Leu
NM_012461.2:c.884C>T	NP_036593.2:p.Ser295Leu
XM_005267528.2:c.884C>T	XP_005267585.1:p.Ser295Leu
XM_005267529.2:c.779C>T	XP_005267586.1:p.Ser260Leu
NM_001099274.2:c.884C>T	NP_001092744.1:p.Ser295Leu
NM_001363668.1:c.779C>T	NP_001350597.1:p.Ser260Leu
NM_012461.3:c.884C>T	NP_036593.2:p.Ser295Leu
XM_011536642.2:c.*264C>T	XP_011534944.1:n.*264C>T
XM_017021216.2:c.242C>T	XP_016876705.1:p.Ser81Leu
XM_017021217.1:c.242C>T	XP_016876706.1:p.Ser81Leu
NM_001099274.3:c.884C>T MANE Select	NP_001092744.1:p.Ser295Leu
NM_001363668.2:c.779C>T	NP_001350597.1:p.Ser260Leu