Canonical Allele Identifier: CA389224318

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709736G>T (hg19) ; chr14:g.24240530G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240530G>T , CM000676.2:g.24240530G>T	GRCh38
NC_000014.8:g.24709736G>T , CM000676.1:g.24709736G>T	GRCh37
NC_000014.7:g.23779576G>T	NCBI36
NG_016650.1:g.7145C>A
NG_054634.1:g.13114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1253C>A
ENST00000557921.3:c.842C>A	ENSP00000453157.3:p.Ala281Asp
ENST00000699682.1:n.1340C>A
ENST00000699683.1:n.1390C>A
ENST00000699684.1:c.*543C>A	ENSP00000514523.1:n.*543C>A
ENST00000699685.1:n.1154C>A
ENST00000699686.1:c.743C>A	ENSP00000514524.1:p.Ala248Asp
ENST00000699687.1:c.845C>A	ENSP00000514525.1:p.Ala282Asp
ENST00000699688.1:n.1150C>A
ENST00000699689.1:n.1506C>A
ENST00000699690.1:n.1703C>A
ENST00000699691.1:n.1847C>A
ENST00000699693.1:n.1367C>A
ENST00000699694.1:n.1609C>A
ENST00000699695.1:c.*322C>A	ENSP00000514526.1:n.*322C>A
ENST00000699696.1:n.1253C>A
ENST00000699697.1:c.950C>A	ENSP00000514527.1:p.Ala317Asp
ENST00000699698.1:n.871C>A
ENST00000699699.1:n.1274C>A
ENST00000699700.1:n.1397C>A
ENST00000699701.1:c.*330C>A	ENSP00000514528.1:n.*330C>A
ENST00000267415.12:c.950C>A MANE Select	ENSP00000267415.7:p.Ala317Asp
ENST00000557921.2:c.842C>A	ENSP00000453157.2:p.Ala281Asp
ENST00000646753.1:c.845C>A	ENSP00000494065.1:p.Ala282Asp
ENST00000267415.11:c.950C>A	ENSP00000267415.7:p.Ala317Asp
ENST00000399423.8:c.950C>A	ENSP00000382350.4:p.Ala317Asp
ENST00000557915.1:n.69C>A
ENST00000558566.1:c.*322C>A	ENSP00000453025.1:n.*322C>A
ENST00000559019.1:c.*322C>A	ENSP00000453675.1:n.*322C>A
ENST00000559969.5:c.758-50C>A
ENST00000626689.2:c.*322C>A	ENSP00000486681.1:n.*322C>A
NM_001099274.1:c.950C>A	NP_001092744.1:p.Ala317Asp
NM_012461.2:c.950C>A	NP_036593.2:p.Ala317Asp
XM_005267528.2:c.950C>A	XP_005267585.1:p.Ala317Asp
XM_005267529.2:c.845C>A	XP_005267586.1:p.Ala282Asp
NM_001099274.2:c.950C>A	NP_001092744.1:p.Ala317Asp
NM_001363668.1:c.845C>A	NP_001350597.1:p.Ala282Asp
NM_012461.3:c.950C>A	NP_036593.2:p.Ala317Asp
XM_011536642.2:c.*330C>A	XP_011534944.1:n.*330C>A
XM_017021216.2:c.308C>A	XP_016876705.1:p.Ala103Asp
XM_017021217.1:c.308C>A	XP_016876706.1:p.Ala103Asp
NM_001099274.3:c.950C>A MANE Select	NP_001092744.1:p.Ala317Asp
NM_001363668.2:c.845C>A	NP_001350597.1:p.Ala282Asp