Canonical Allele Identifier: CA389225654

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709851G>T (hg19) ; chr14:g.24240645G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240645G>T , CM000676.2:g.24240645G>T	GRCh38
NC_000014.8:g.24709851G>T , CM000676.1:g.24709851G>T	GRCh37
NC_000014.7:g.23779691G>T	NCBI36
NG_016650.1:g.7030C>A
NG_054634.1:g.13229G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1138C>A
ENST00000557921.3:c.727C>A	ENSP00000453157.3:p.His243Asn
ENST00000699682.1:n.1225C>A
ENST00000699683.1:n.1275C>A
ENST00000699684.1:c.*428C>A	ENSP00000514523.1:n.*428C>A
ENST00000699685.1:n.1039C>A
ENST00000699686.1:c.628C>A	ENSP00000514524.1:p.His210Asn
ENST00000699687.1:c.730C>A	ENSP00000514525.1:p.His244Asn
ENST00000699688.1:n.1035C>A
ENST00000699689.1:n.1391C>A
ENST00000699690.1:n.1588C>A
ENST00000699691.1:n.1732C>A
ENST00000699693.1:n.1252C>A
ENST00000699694.1:n.1494C>A
ENST00000699695.1:c.*207C>A	ENSP00000514526.1:n.*207C>A
ENST00000699696.1:n.1138C>A
ENST00000699697.1:c.835C>A	ENSP00000514527.1:p.His279Asn
ENST00000699698.1:n.756C>A
ENST00000699699.1:n.1159C>A
ENST00000699700.1:n.1282C>A
ENST00000699701.1:c.*215C>A	ENSP00000514528.1:n.*215C>A
ENST00000267415.12:c.835C>A MANE Select	ENSP00000267415.7:p.His279Asn
ENST00000557921.2:c.727C>A	ENSP00000453157.2:p.His243Asn
ENST00000646753.1:c.730C>A	ENSP00000494065.1:p.His244Asn
ENST00000267415.11:c.835C>A	ENSP00000267415.7:p.His279Asn
ENST00000399423.8:c.835C>A	ENSP00000382350.4:p.His279Asn
ENST00000558476.5:c.397C>A	ENSP00000452724.1:p.His133Asn
ENST00000558566.1:c.*207C>A	ENSP00000453025.1:n.*207C>A
ENST00000559019.1:c.*207C>A	ENSP00000453675.1:n.*207C>A
ENST00000559549.1:n.561C>A
ENST00000559969.5:c.757+34C>A
ENST00000626689.2:c.*207C>A	ENSP00000486681.1:n.*207C>A
NM_001099274.1:c.835C>A	NP_001092744.1:p.His279Asn
NM_012461.2:c.835C>A	NP_036593.2:p.His279Asn
XM_005267528.2:c.835C>A	XP_005267585.1:p.His279Asn
XM_005267529.2:c.730C>A	XP_005267586.1:p.His244Asn
NM_001099274.2:c.835C>A	NP_001092744.1:p.His279Asn
NM_001363668.1:c.730C>A	NP_001350597.1:p.His244Asn
NM_012461.3:c.835C>A	NP_036593.2:p.His279Asn
XM_011536642.2:c.*215C>A	XP_011534944.1:n.*215C>A
XM_017021216.2:c.193C>A	XP_016876705.1:p.His65Asn
XM_017021217.1:c.193C>A	XP_016876706.1:p.His65Asn
NM_001099274.3:c.835C>A MANE Select	NP_001092744.1:p.His279Asn
NM_001363668.2:c.730C>A	NP_001350597.1:p.His244Asn