Canonical Allele Identifier: CA389223023

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709527C>A (hg19) ; chr14:g.24240321C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240321C>A , CM000676.2:g.24240321C>A	GRCh38
NC_000014.8:g.24709527C>A , CM000676.1:g.24709527C>A	GRCh37
NC_000014.7:g.23779367C>A	NCBI36
NG_016650.1:g.7354G>T
NG_054634.1:g.12905C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1462G>T
ENST00000557921.3:c.*94G>T	ENSP00000453157.3:n.*94G>T
ENST00000699682.1:n.1549G>T
ENST00000699683.1:n.1599G>T
ENST00000699684.1:c.*752G>T	ENSP00000514523.1:n.*752G>T
ENST00000699685.1:n.1363G>T
ENST00000699686.1:c.*94G>T	ENSP00000514524.1:n.*94G>T
ENST00000699687.1:c.*94G>T	ENSP00000514525.1:n.*94G>T
ENST00000699688.1:n.1359G>T
ENST00000699689.1:n.1715G>T
ENST00000699690.1:n.1912G>T
ENST00000699691.1:n.2056G>T
ENST00000699692.1:n.10G>T
ENST00000699693.1:n.1488G>T
ENST00000699694.1:n.1818G>T
ENST00000699695.1:c.*443G>T	ENSP00000514526.1:n.*443G>T
ENST00000699696.1:n.1462G>T
ENST00000699697.1:c.1071G>T	ENSP00000514527.1:p.Leu357Phe
ENST00000699698.1:n.992G>T
ENST00000699699.1:n.1483G>T
ENST00000699700.1:n.1606G>T
ENST00000699701.1:c.*539G>T	ENSP00000514528.1:n.*539G>T
ENST00000267415.12:c.1071G>T MANE Select	ENSP00000267415.7:p.Leu357Phe
ENST00000646753.1:c.966G>T	ENSP00000494065.1:p.Leu322Phe
ENST00000267415.11:c.1071G>T	ENSP00000267415.7:p.Leu357Phe
ENST00000399423.8:c.*94G>T	ENSP00000382350.4:n.*94G>T
ENST00000557915.1:n.278G>T
ENST00000558566.1:c.*531G>T	ENSP00000453025.1:n.*531G>T
ENST00000559969.5:c.917G>T
ENST00000560019.5:c.66G>T	ENSP00000453113.1:p.Leu22Phe
ENST00000626689.2:c.*443G>T	ENSP00000486681.1:n.*443G>T
NM_001099274.1:c.1071G>T	NP_001092744.1:p.Leu357Phe
NM_012461.2:c.*94G>T	NP_036593.2:n.*94G>T
XM_005267528.2:c.1071G>T	XP_005267585.1:p.Leu357Phe
XM_005267529.2:c.966G>T	XP_005267586.1:p.Leu322Phe
NM_001099274.2:c.1071G>T	NP_001092744.1:p.Leu357Phe
NM_001363668.1:c.966G>T	NP_001350597.1:p.Leu322Phe
NM_012461.3:c.*94G>T	NP_036593.2:n.*94G>T
XM_011536642.2:c.*539G>T	XP_011534944.1:n.*539G>T
XM_017021216.2:c.429G>T	XP_016876705.1:p.Leu143Phe
XM_017021217.1:c.429G>T	XP_016876706.1:p.Leu143Phe
NM_001099274.3:c.1071G>T MANE Select	NP_001092744.1:p.Leu357Phe
NM_001363668.2:c.966G>T	NP_001350597.1:p.Leu322Phe