Canonical Allele Identifier: CA485782391

Gene: TINF2

Linked Data

• dbSNP Id: rs1461242657
• gnomAD v4: 14-24240538-T-G
• MyVariant Identifiers: chr14:g.24709744T>G (hg19) ; chr14:g.24240538T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240538T>G , CM000676.2:g.24240538T>G	GRCh38
NC_000014.8:g.24709744T>G , CM000676.1:g.24709744T>G	GRCh37
NC_000014.7:g.23779584T>G	NCBI36
NG_016650.1:g.7137A>C
NG_054634.1:g.13122T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1245A>C
ENST00000557921.3:c.834A>C	ENSP00000453157.3:p.Ala278=
ENST00000699682.1:n.1332A>C
ENST00000699683.1:n.1382A>C
ENST00000699684.1:c.*535A>C	ENSP00000514523.1:n.*535A>C
ENST00000699685.1:n.1146A>C
ENST00000699686.1:c.735A>C	ENSP00000514524.1:p.Ala245=
ENST00000699687.1:c.837A>C	ENSP00000514525.1:p.Ala279=
ENST00000699688.1:n.1142A>C
ENST00000699689.1:n.1498A>C
ENST00000699690.1:n.1695A>C
ENST00000699691.1:n.1839A>C
ENST00000699693.1:n.1359A>C
ENST00000699694.1:n.1601A>C
ENST00000699695.1:c.*314A>C	ENSP00000514526.1:n.*314A>C
ENST00000699696.1:n.1245A>C
ENST00000699697.1:c.942A>C	ENSP00000514527.1:p.Ala314=
ENST00000699698.1:n.863A>C
ENST00000699699.1:n.1266A>C
ENST00000699700.1:n.1389A>C
ENST00000699701.1:c.*322A>C	ENSP00000514528.1:n.*322A>C
ENST00000267415.12:c.942A>C MANE Select	ENSP00000267415.7:p.Ala314=
ENST00000557921.2:c.834A>C	ENSP00000453157.2:p.Ala278=
ENST00000646753.1:c.837A>C	ENSP00000494065.1:p.Ala279=
ENST00000267415.11:c.942A>C	ENSP00000267415.7:p.Ala314=
ENST00000399423.8:c.942A>C	ENSP00000382350.4:p.Ala314=
ENST00000557915.1:n.61A>C
ENST00000558566.1:c.*314A>C	ENSP00000453025.1:n.*314A>C
ENST00000559019.1:c.*314A>C	ENSP00000453675.1:n.*314A>C
ENST00000559969.5:c.758-58A>C
ENST00000626689.2:c.*314A>C	ENSP00000486681.1:n.*314A>C
NM_001099274.1:c.942A>C	NP_001092744.1:p.Ala314=
NM_012461.2:c.942A>C	NP_036593.2:p.Ala314=
XM_005267528.2:c.942A>C	XP_005267585.1:p.Ala314=
XM_005267529.2:c.837A>C	XP_005267586.1:p.Ala279=
NM_001099274.2:c.942A>C	NP_001092744.1:p.Ala314=
NM_001363668.1:c.837A>C	NP_001350597.1:p.Ala279=
NM_012461.3:c.942A>C	NP_036593.2:p.Ala314=
XM_011536642.2:c.*322A>C	XP_011534944.1:n.*322A>C
XM_017021216.2:c.300A>C	XP_016876705.1:p.Ala100=
XM_017021217.1:c.300A>C	XP_016876706.1:p.Ala100=
NM_001099274.3:c.942A>C MANE Select	NP_001092744.1:p.Ala314=
NM_001363668.2:c.837A>C	NP_001350597.1:p.Ala279=