Canonical Allele Identifier: CA257880895

Gene: TINF2

Linked Data

• dbSNP Id: rs113905507
• gnomAD v4: 14-24240535-G-A
• MyVariant Identifiers: chr14:g.24709741G>A (hg19) ; chr14:g.24240535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240535G>A , CM000676.2:g.24240535G>A	GRCh38
NC_000014.8:g.24709741G>A , CM000676.1:g.24709741G>A	GRCh37
NC_000014.7:g.23779581G>A	NCBI36
NG_016650.1:g.7140C>T
NG_054634.1:g.13119G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1248C>T
ENST00000557921.3:c.837C>T	ENSP00000453157.3:p.Asp279=
ENST00000699682.1:n.1335C>T
ENST00000699683.1:n.1385C>T
ENST00000699684.1:c.*538C>T	ENSP00000514523.1:n.*538C>T
ENST00000699685.1:n.1149C>T
ENST00000699686.1:c.738C>T	ENSP00000514524.1:p.Asp246=
ENST00000699687.1:c.840C>T	ENSP00000514525.1:p.Asp280=
ENST00000699688.1:n.1145C>T
ENST00000699689.1:n.1501C>T
ENST00000699690.1:n.1698C>T
ENST00000699691.1:n.1842C>T
ENST00000699693.1:n.1362C>T
ENST00000699694.1:n.1604C>T
ENST00000699695.1:c.*317C>T	ENSP00000514526.1:n.*317C>T
ENST00000699696.1:n.1248C>T
ENST00000699697.1:c.945C>T	ENSP00000514527.1:p.Asp315=
ENST00000699698.1:n.866C>T
ENST00000699699.1:n.1269C>T
ENST00000699700.1:n.1392C>T
ENST00000699701.1:c.*325C>T	ENSP00000514528.1:n.*325C>T
ENST00000267415.12:c.945C>T MANE Select	ENSP00000267415.7:p.Asp315=
ENST00000557921.2:c.837C>T	ENSP00000453157.2:p.Asp279=
ENST00000646753.1:c.840C>T	ENSP00000494065.1:p.Asp280=
ENST00000267415.11:c.945C>T	ENSP00000267415.7:p.Asp315=
ENST00000399423.8:c.945C>T	ENSP00000382350.4:p.Asp315=
ENST00000557915.1:n.64C>T
ENST00000558566.1:c.*317C>T	ENSP00000453025.1:n.*317C>T
ENST00000559019.1:c.*317C>T	ENSP00000453675.1:n.*317C>T
ENST00000559969.5:c.758-55C>T
ENST00000626689.2:c.*317C>T	ENSP00000486681.1:n.*317C>T
NM_001099274.1:c.945C>T	NP_001092744.1:p.Asp315=
NM_012461.2:c.945C>T	NP_036593.2:p.Asp315=
XM_005267528.2:c.945C>T	XP_005267585.1:p.Asp315=
XM_005267529.2:c.840C>T	XP_005267586.1:p.Asp280=
NM_001099274.2:c.945C>T	NP_001092744.1:p.Asp315=
NM_001363668.1:c.840C>T	NP_001350597.1:p.Asp280=
NM_012461.3:c.945C>T	NP_036593.2:p.Asp315=
XM_011536642.2:c.*325C>T	XP_011534944.1:n.*325C>T
XM_017021216.2:c.303C>T	XP_016876705.1:p.Asp101=
XM_017021217.1:c.303C>T	XP_016876706.1:p.Asp101=
NM_001099274.3:c.945C>T MANE Select	NP_001092744.1:p.Asp315=
NM_001363668.2:c.840C>T	NP_001350597.1:p.Asp280=