Canonical Allele Identifier: CA7130541

Gene: TINF2

Linked Data

• dbSNP Id: rs781277991
• ExAC: 14:24709747 T / C
• gnomAD v2: 14-24709747-T-C
• gnomAD v4: 14-24240541-T-C
• MyVariant Identifiers: chr14:g.24709747T>C (hg19) ; chr14:g.24240541T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240541T>C , CM000676.2:g.24240541T>C	GRCh38
NC_000014.8:g.24709747T>C , CM000676.1:g.24709747T>C	GRCh37
NC_000014.7:g.23779587T>C	NCBI36
NG_016650.1:g.7134A>G
NG_054634.1:g.13125T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1242A>G
ENST00000557921.3:c.831A>G	ENSP00000453157.3:p.Thr277=
ENST00000699682.1:n.1329A>G
ENST00000699683.1:n.1379A>G
ENST00000699684.1:c.*532A>G	ENSP00000514523.1:n.*532A>G
ENST00000699685.1:n.1143A>G
ENST00000699686.1:c.732A>G	ENSP00000514524.1:p.Thr244=
ENST00000699687.1:c.834A>G	ENSP00000514525.1:p.Thr278=
ENST00000699688.1:n.1139A>G
ENST00000699689.1:n.1495A>G
ENST00000699690.1:n.1692A>G
ENST00000699691.1:n.1836A>G
ENST00000699693.1:n.1356A>G
ENST00000699694.1:n.1598A>G
ENST00000699695.1:c.*311A>G	ENSP00000514526.1:n.*311A>G
ENST00000699696.1:n.1242A>G
ENST00000699697.1:c.939A>G	ENSP00000514527.1:p.Thr313=
ENST00000699698.1:n.860A>G
ENST00000699699.1:n.1263A>G
ENST00000699700.1:n.1386A>G
ENST00000699701.1:c.*319A>G	ENSP00000514528.1:n.*319A>G
ENST00000267415.12:c.939A>G MANE Select	ENSP00000267415.7:p.Thr313=
ENST00000557921.2:c.831A>G	ENSP00000453157.2:p.Thr277=
ENST00000646753.1:c.834A>G	ENSP00000494065.1:p.Thr278=
ENST00000267415.11:c.939A>G	ENSP00000267415.7:p.Thr313=
ENST00000399423.8:c.939A>G	ENSP00000382350.4:p.Thr313=
ENST00000557915.1:n.58A>G
ENST00000558566.1:c.*311A>G	ENSP00000453025.1:n.*311A>G
ENST00000559019.1:c.*311A>G	ENSP00000453675.1:n.*311A>G
ENST00000559969.5:c.758-61A>G
ENST00000626689.2:c.*311A>G	ENSP00000486681.1:n.*311A>G
NM_001099274.1:c.939A>G	NP_001092744.1:p.Thr313=
NM_012461.2:c.939A>G	NP_036593.2:p.Thr313=
XM_005267528.2:c.939A>G	XP_005267585.1:p.Thr313=
XM_005267529.2:c.834A>G	XP_005267586.1:p.Thr278=
NM_001099274.2:c.939A>G	NP_001092744.1:p.Thr313=
NM_001363668.1:c.834A>G	NP_001350597.1:p.Thr278=
NM_012461.3:c.939A>G	NP_036593.2:p.Thr313=
XM_011536642.2:c.*319A>G	XP_011534944.1:n.*319A>G
XM_017021216.2:c.297A>G	XP_016876705.1:p.Thr99=
XM_017021217.1:c.297A>G	XP_016876706.1:p.Thr99=
NM_001099274.3:c.939A>G MANE Select	NP_001092744.1:p.Thr313=
NM_001363668.2:c.834A>G	NP_001350597.1:p.Thr278=