Canonical Allele Identifier: CA389223654

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709668G>T (hg19) ; chr14:g.24240462G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240462G>T , CM000676.2:g.24240462G>T	GRCh38
NC_000014.8:g.24709668G>T , CM000676.1:g.24709668G>T	GRCh37
NC_000014.7:g.23779508G>T	NCBI36
NG_016650.1:g.7213C>A
NG_054634.1:g.13046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1321C>A
ENST00000557921.3:c.910C>A	ENSP00000453157.3:p.Leu304Met
ENST00000699682.1:n.1408C>A
ENST00000699683.1:n.1458C>A
ENST00000699684.1:c.*611C>A	ENSP00000514523.1:n.*611C>A
ENST00000699685.1:n.1222C>A
ENST00000699686.1:c.811C>A	ENSP00000514524.1:p.Leu271Met
ENST00000699687.1:c.913C>A	ENSP00000514525.1:p.Leu305Met
ENST00000699688.1:n.1218C>A
ENST00000699689.1:n.1574C>A
ENST00000699690.1:n.1771C>A
ENST00000699691.1:n.1915C>A
ENST00000699693.1:n.1435C>A
ENST00000699694.1:n.1677C>A
ENST00000699695.1:c.*390C>A	ENSP00000514526.1:n.*390C>A
ENST00000699696.1:n.1321C>A
ENST00000699697.1:c.1018C>A	ENSP00000514527.1:p.Leu340Met
ENST00000699698.1:n.939C>A
ENST00000699699.1:n.1342C>A
ENST00000699700.1:n.1465C>A
ENST00000699701.1:c.*398C>A	ENSP00000514528.1:n.*398C>A
ENST00000267415.12:c.1018C>A MANE Select	ENSP00000267415.7:p.Leu340Met
ENST00000646753.1:c.913C>A	ENSP00000494065.1:p.Leu305Met
ENST00000267415.11:c.1018C>A	ENSP00000267415.7:p.Leu340Met
ENST00000399423.8:c.1018C>A	ENSP00000382350.4:p.Leu340Met
ENST00000557915.1:n.137C>A
ENST00000558566.1:c.*390C>A	ENSP00000453025.1:n.*390C>A
ENST00000559969.5:c.776C>A
ENST00000560019.5:c.13C>A	ENSP00000453113.1:p.Leu5Met
ENST00000626689.2:c.*390C>A	ENSP00000486681.1:n.*390C>A
NM_001099274.1:c.1018C>A	NP_001092744.1:p.Leu340Met
NM_012461.2:c.1018C>A	NP_036593.2:p.Leu340Met
XM_005267528.2:c.1018C>A	XP_005267585.1:p.Leu340Met
XM_005267529.2:c.913C>A	XP_005267586.1:p.Leu305Met
NM_001099274.2:c.1018C>A	NP_001092744.1:p.Leu340Met
NM_001363668.1:c.913C>A	NP_001350597.1:p.Leu305Met
NM_012461.3:c.1018C>A	NP_036593.2:p.Leu340Met
XM_011536642.2:c.*398C>A	XP_011534944.1:n.*398C>A
XM_017021216.2:c.376C>A	XP_016876705.1:p.Leu126Met
XM_017021217.1:c.376C>A	XP_016876706.1:p.Leu126Met
NM_001099274.3:c.1018C>A MANE Select	NP_001092744.1:p.Leu340Met
NM_001363668.2:c.913C>A	NP_001350597.1:p.Leu305Met