Canonical Allele Identifier: CA389222583

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709482C>G (hg19) ; chr14:g.24240276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240276C>G , CM000676.2:g.24240276C>G	GRCh38
NC_000014.8:g.24709482C>G , CM000676.1:g.24709482C>G	GRCh37
NC_000014.7:g.23779322C>G	NCBI36
NG_016650.1:g.7399G>C
NG_054634.1:g.12860C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1507G>C
ENST00000557921.3:c.*139G>C	ENSP00000453157.3:n.*139G>C
ENST00000699682.1:n.1594G>C
ENST00000699683.1:n.1644G>C
ENST00000699684.1:c.*797G>C	ENSP00000514523.1:n.*797G>C
ENST00000699685.1:n.1408G>C
ENST00000699686.1:c.*139G>C	ENSP00000514524.1:n.*139G>C
ENST00000699687.1:c.*139G>C	ENSP00000514525.1:n.*139G>C
ENST00000699688.1:n.1404G>C
ENST00000699689.1:n.1760G>C
ENST00000699690.1:n.1957G>C
ENST00000699691.1:n.2101G>C
ENST00000699692.1:n.55G>C
ENST00000699693.1:n.1533G>C
ENST00000699694.1:n.1863G>C
ENST00000699695.1:c.*488G>C	ENSP00000514526.1:n.*488G>C
ENST00000699696.1:n.1507G>C
ENST00000699697.1:c.1116G>C	ENSP00000514527.1:p.Arg372Ser
ENST00000699698.1:n.1037G>C
ENST00000699699.1:n.1528G>C
ENST00000699700.1:n.1651G>C
ENST00000699701.1:c.*584G>C	ENSP00000514528.1:n.*584G>C
ENST00000267415.12:c.1116G>C MANE Select	ENSP00000267415.7:p.Arg372Ser
ENST00000646753.1:c.1011G>C	ENSP00000494065.1:p.Arg337Ser
ENST00000267415.11:c.1116G>C	ENSP00000267415.7:p.Arg372Ser
ENST00000399423.8:c.*139G>C	ENSP00000382350.4:n.*139G>C
ENST00000557915.1:n.323G>C
ENST00000558566.1:c.*576G>C	ENSP00000453025.1:n.*576G>C
ENST00000559969.5:c.962G>C
ENST00000560019.5:c.111G>C	ENSP00000453113.1:p.Arg37Ser
ENST00000626689.2:c.*488G>C	ENSP00000486681.1:n.*488G>C
NM_001099274.1:c.1116G>C	NP_001092744.1:p.Arg372Ser
NM_012461.2:c.*139G>C	NP_036593.2:n.*139G>C
XM_005267528.2:c.1116G>C	XP_005267585.1:p.Arg372Ser
XM_005267529.2:c.1011G>C	XP_005267586.1:p.Arg337Ser
NM_001099274.2:c.1116G>C	NP_001092744.1:p.Arg372Ser
NM_001363668.1:c.1011G>C	NP_001350597.1:p.Arg337Ser
NM_012461.3:c.*139G>C	NP_036593.2:n.*139G>C
XM_011536642.2:c.*584G>C	XP_011534944.1:n.*584G>C
XM_017021216.2:c.474G>C	XP_016876705.1:p.Arg158Ser
XM_017021217.1:c.474G>C	XP_016876706.1:p.Arg158Ser
NM_001099274.3:c.1116G>C MANE Select	NP_001092744.1:p.Arg372Ser
NM_001363668.2:c.1011G>C	NP_001350597.1:p.Arg337Ser