Canonical Allele Identifier: CA7130514

Gene: TINF2

Linked Data

• dbSNP Id: rs758545278
• ExAC: 14:24709585 A / G
• gnomAD v2: 14-24709585-A-G
• gnomAD v3: 14-24240379-A-G
• gnomAD v4: 14-24240379-A-G
• MyVariant Identifiers: chr14:g.24709585A>G (hg19) ; chr14:g.24240379A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240379A>G , CM000676.2:g.24240379A>G	GRCh38
NC_000014.8:g.24709585A>G , CM000676.1:g.24709585A>G	GRCh37
NC_000014.7:g.23779425A>G	NCBI36
NG_016650.1:g.7296T>C
NG_054634.1:g.12963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1404T>C
ENST00000557921.3:c.*36T>C	ENSP00000453157.3:n.*36T>C
ENST00000699682.1:n.1491T>C
ENST00000699683.1:n.1541T>C
ENST00000699684.1:c.*694T>C	ENSP00000514523.1:n.*694T>C
ENST00000699685.1:n.1305T>C
ENST00000699686.1:c.*36T>C	ENSP00000514524.1:n.*36T>C
ENST00000699687.1:c.*36T>C	ENSP00000514525.1:n.*36T>C
ENST00000699688.1:n.1301T>C
ENST00000699689.1:n.1657T>C
ENST00000699690.1:n.1854T>C
ENST00000699691.1:n.1998T>C
ENST00000699693.1:n.1478+40T>C
ENST00000699694.1:n.1760T>C
ENST00000699695.1:c.*433+40T>C	ENSP00000514526.1:n.*433+40T>C
ENST00000699696.1:n.1404T>C
ENST00000699697.1:c.1061+40T>C	ENSP00000514527.1:n.1061+40T>C
ENST00000699698.1:n.982+40T>C
ENST00000699699.1:n.1425T>C
ENST00000699700.1:n.1548T>C
ENST00000699701.1:c.*481T>C	ENSP00000514528.1:n.*481T>C
ENST00000267415.12:c.1061+40T>C MANE Select	ENSP00000267415.7:n.1061+40T>C
ENST00000646753.1:c.956+40T>C	ENSP00000494065.1:n.956+40T>C
ENST00000267415.11:c.1061+40T>C	ENSP00000267415.7:n.1061+40T>C
ENST00000399423.8:c.*36T>C	ENSP00000382350.4:n.*36T>C
ENST00000557915.1:n.220T>C
ENST00000558566.1:c.*473T>C	ENSP00000453025.1:n.*473T>C
ENST00000559969.5:c.859T>C
ENST00000560019.5:c.56+40T>C	ENSP00000453113.1:n.56+40T>C
ENST00000626689.2:c.*433+40T>C	ENSP00000486681.1:n.*433+40T>C
NM_001099274.1:c.1061+40T>C	NP_001092744.1:n.1061+40T>C
NM_012461.2:c.*36T>C	NP_036593.2:n.*36T>C
XM_005267528.2:c.1061+40T>C	XP_005267585.1:n.1061+40T>C
XM_005267529.2:c.956+40T>C	XP_005267586.1:n.956+40T>C
NM_001099274.2:c.1061+40T>C	NP_001092744.1:n.1061+40T>C
NM_001363668.1:c.956+40T>C	NP_001350597.1:n.956+40T>C
NM_012461.3:c.*36T>C	NP_036593.2:n.*36T>C
XM_011536642.2:c.*481T>C	XP_011534944.1:n.*481T>C
XM_017021216.2:c.419+40T>C	XP_016876705.1:n.419+40T>C
XM_017021217.1:c.419+40T>C	XP_016876706.1:n.419+40T>C
NM_001099274.3:c.1061+40T>C MANE Select	NP_001092744.1:n.1061+40T>C
NM_001363668.2:c.956+40T>C	NP_001350597.1:n.956+40T>C