Canonical Allele Identifier: CA257880873

Gene: TINF2

Linked Data

• dbSNP Id: rs969387053
• gnomAD v2: 14-24709642-A-T
• gnomAD v3: 14-24240436-A-T
• gnomAD v4: 14-24240436-A-T
• MyVariant Identifiers: chr14:g.24709642A>T (hg19) ; chr14:g.24240436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240436A>T , CM000676.2:g.24240436A>T	GRCh38
NC_000014.8:g.24709642A>T , CM000676.1:g.24709642A>T	GRCh37
NC_000014.7:g.23779482A>T	NCBI36
NG_016650.1:g.7239T>A
NG_054634.1:g.13020A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1347T>A
ENST00000557921.3:c.936T>A	ENSP00000453157.3:p.Pro312=
ENST00000699682.1:n.1434T>A
ENST00000699683.1:n.1484T>A
ENST00000699684.1:c.*637T>A	ENSP00000514523.1:n.*637T>A
ENST00000699685.1:n.1248T>A
ENST00000699686.1:c.837T>A	ENSP00000514524.1:p.Pro279=
ENST00000699687.1:c.939T>A	ENSP00000514525.1:p.Pro313=
ENST00000699688.1:n.1244T>A
ENST00000699689.1:n.1600T>A
ENST00000699690.1:n.1797T>A
ENST00000699691.1:n.1941T>A
ENST00000699693.1:n.1461T>A
ENST00000699694.1:n.1703T>A
ENST00000699695.1:c.*416T>A	ENSP00000514526.1:n.*416T>A
ENST00000699696.1:n.1347T>A
ENST00000699697.1:c.1044T>A	ENSP00000514527.1:p.Pro348=
ENST00000699698.1:n.965T>A
ENST00000699699.1:n.1368T>A
ENST00000699700.1:n.1491T>A
ENST00000699701.1:c.*424T>A	ENSP00000514528.1:n.*424T>A
ENST00000267415.12:c.1044T>A MANE Select	ENSP00000267415.7:p.Pro348=
ENST00000646753.1:c.939T>A	ENSP00000494065.1:p.Pro313=
ENST00000267415.11:c.1044T>A	ENSP00000267415.7:p.Pro348=
ENST00000399423.8:c.1044T>A	ENSP00000382350.4:p.Pro348=
ENST00000557915.1:n.163T>A
ENST00000558566.1:c.*416T>A	ENSP00000453025.1:n.*416T>A
ENST00000559969.5:c.802T>A
ENST00000560019.5:c.39T>A	ENSP00000453113.1:p.Pro13=
ENST00000626689.2:c.*416T>A	ENSP00000486681.1:n.*416T>A
NM_001099274.1:c.1044T>A	NP_001092744.1:p.Pro348=
NM_012461.2:c.1044T>A	NP_036593.2:p.Pro348=
XM_005267528.2:c.1044T>A	XP_005267585.1:p.Pro348=
XM_005267529.2:c.939T>A	XP_005267586.1:p.Pro313=
NM_001099274.2:c.1044T>A	NP_001092744.1:p.Pro348=
NM_001363668.1:c.939T>A	NP_001350597.1:p.Pro313=
NM_012461.3:c.1044T>A	NP_036593.2:p.Pro348=
XM_011536642.2:c.*424T>A	XP_011534944.1:n.*424T>A
XM_017021216.2:c.402T>A	XP_016876705.1:p.Pro134=
XM_017021217.1:c.402T>A	XP_016876706.1:p.Pro134=
NM_001099274.3:c.1044T>A MANE Select	NP_001092744.1:p.Pro348=
NM_001363668.2:c.939T>A	NP_001350597.1:p.Pro313=