Canonical Allele Identifier: CA389227270

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24710000T>A (hg19) ; chr14:g.24240794T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240794T>A , CM000676.2:g.24240794T>A	GRCh38
NC_000014.8:g.24710000T>A , CM000676.1:g.24710000T>A	GRCh37
NC_000014.7:g.23779840T>A	NCBI36
NG_016650.1:g.6881A>T
NG_054634.1:g.13378T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.989A>T
ENST00000557921.3:c.578A>T	ENSP00000453157.3:p.Asn193Ile
ENST00000699682.1:n.1076A>T
ENST00000699683.1:n.1126A>T
ENST00000699684.1:c.*279A>T	ENSP00000514523.1:n.*279A>T
ENST00000699685.1:n.890A>T
ENST00000699686.1:c.479A>T	ENSP00000514524.1:p.Asn160Ile
ENST00000699687.1:c.581A>T	ENSP00000514525.1:p.Asn194Ile
ENST00000699688.1:n.886A>T
ENST00000699689.1:n.1242A>T
ENST00000699690.1:n.1439A>T
ENST00000699691.1:n.1583A>T
ENST00000699693.1:n.1103A>T
ENST00000699694.1:n.1345A>T
ENST00000699695.1:c.*58A>T	ENSP00000514526.1:n.*58A>T
ENST00000699696.1:n.989A>T
ENST00000699697.1:c.686A>T	ENSP00000514527.1:p.Asn229Ile
ENST00000699698.1:n.607A>T
ENST00000699699.1:n.1010A>T
ENST00000699700.1:n.1133A>T
ENST00000699701.1:c.*66A>T	ENSP00000514528.1:n.*66A>T
ENST00000267415.12:c.686A>T MANE Select	ENSP00000267415.7:p.Asn229Ile
ENST00000557921.2:c.578A>T	ENSP00000453157.2:p.Asn193Ile
ENST00000646753.1:c.581A>T	ENSP00000494065.1:p.Asn194Ile
ENST00000267415.11:c.686A>T	ENSP00000267415.7:p.Asn229Ile
ENST00000399423.8:c.686A>T	ENSP00000382350.4:p.Asn229Ile
ENST00000558476.5:c.248A>T	ENSP00000452724.1:p.Asn83Ile
ENST00000558566.1:c.*58A>T	ENSP00000453025.1:n.*58A>T
ENST00000559019.1:c.*58A>T	ENSP00000453675.1:n.*58A>T
ENST00000559549.1:n.412A>T
ENST00000559969.5:c.642A>T
ENST00000626689.2:c.*58A>T	ENSP00000486681.1:n.*58A>T
NM_001099274.1:c.686A>T	NP_001092744.1:p.Asn229Ile
NM_012461.2:c.686A>T	NP_036593.2:p.Asn229Ile
XM_005267528.2:c.686A>T	XP_005267585.1:p.Asn229Ile
XM_005267529.2:c.581A>T	XP_005267586.1:p.Asn194Ile
XM_011536642.1:c.*66A>T	XP_011534944.1:n.*66A>T
NM_001099274.2:c.686A>T	NP_001092744.1:p.Asn229Ile
NM_001363668.1:c.581A>T	NP_001350597.1:p.Asn194Ile
NM_012461.3:c.686A>T	NP_036593.2:p.Asn229Ile
XM_011536642.2:c.*66A>T	XP_011534944.1:n.*66A>T
XM_017021216.2:c.44A>T	XP_016876705.1:p.Asn15Ile
XM_017021217.1:c.44A>T	XP_016876706.1:p.Asn15Ile
NM_001099274.3:c.686A>T MANE Select	NP_001092744.1:p.Asn229Ile
NM_001363668.2:c.581A>T	NP_001350597.1:p.Asn194Ile