Canonical Allele Identifier: CA389225356

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709822A>C (hg19) ; chr14:g.24240616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240616A>C , CM000676.2:g.24240616A>C	GRCh38
NC_000014.8:g.24709822A>C , CM000676.1:g.24709822A>C	GRCh37
NC_000014.7:g.23779662A>C	NCBI36
NG_016650.1:g.7059T>G
NG_054634.1:g.13200A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1167T>G
ENST00000557921.3:c.756T>G	ENSP00000453157.3:p.Phe252Leu
ENST00000699682.1:n.1254T>G
ENST00000699683.1:n.1304T>G
ENST00000699684.1:c.*457T>G	ENSP00000514523.1:n.*457T>G
ENST00000699685.1:n.1068T>G
ENST00000699686.1:c.657T>G	ENSP00000514524.1:p.Phe219Leu
ENST00000699687.1:c.759T>G	ENSP00000514525.1:p.Phe253Leu
ENST00000699688.1:n.1064T>G
ENST00000699689.1:n.1420T>G
ENST00000699690.1:n.1617T>G
ENST00000699691.1:n.1761T>G
ENST00000699693.1:n.1281T>G
ENST00000699694.1:n.1523T>G
ENST00000699695.1:c.*236T>G	ENSP00000514526.1:n.*236T>G
ENST00000699696.1:n.1167T>G
ENST00000699697.1:c.864T>G	ENSP00000514527.1:p.Phe288Leu
ENST00000699698.1:n.785T>G
ENST00000699699.1:n.1188T>G
ENST00000699700.1:n.1311T>G
ENST00000699701.1:c.*244T>G	ENSP00000514528.1:n.*244T>G
ENST00000267415.12:c.864T>G MANE Select	ENSP00000267415.7:p.Phe288Leu
ENST00000557921.2:c.756T>G	ENSP00000453157.2:p.Phe252Leu
ENST00000646753.1:c.759T>G	ENSP00000494065.1:p.Phe253Leu
ENST00000267415.11:c.864T>G	ENSP00000267415.7:p.Phe288Leu
ENST00000399423.8:c.864T>G	ENSP00000382350.4:p.Phe288Leu
ENST00000558476.5:c.426T>G	ENSP00000452724.1:p.Phe142Leu
ENST00000558566.1:c.*236T>G	ENSP00000453025.1:n.*236T>G
ENST00000559019.1:c.*236T>G	ENSP00000453675.1:n.*236T>G
ENST00000559549.1:n.590T>G
ENST00000559969.5:c.757+63T>G
ENST00000626689.2:c.*236T>G	ENSP00000486681.1:n.*236T>G
NM_001099274.1:c.864T>G	NP_001092744.1:p.Phe288Leu
NM_012461.2:c.864T>G	NP_036593.2:p.Phe288Leu
XM_005267528.2:c.864T>G	XP_005267585.1:p.Phe288Leu
XM_005267529.2:c.759T>G	XP_005267586.1:p.Phe253Leu
NM_001099274.2:c.864T>G	NP_001092744.1:p.Phe288Leu
NM_001363668.1:c.759T>G	NP_001350597.1:p.Phe253Leu
NM_012461.3:c.864T>G	NP_036593.2:p.Phe288Leu
XM_011536642.2:c.*244T>G	XP_011534944.1:n.*244T>G
XM_017021216.2:c.222T>G	XP_016876705.1:p.Phe74Leu
XM_017021217.1:c.222T>G	XP_016876706.1:p.Phe74Leu
NM_001099274.3:c.864T>G MANE Select	NP_001092744.1:p.Phe288Leu
NM_001363668.2:c.759T>G	NP_001350597.1:p.Phe253Leu