Canonical Allele Identifier: CA389224803

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709768C>G (hg19) ; chr14:g.24240562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240562C>G , CM000676.2:g.24240562C>G	GRCh38
NC_000014.8:g.24709768C>G , CM000676.1:g.24709768C>G	GRCh37
NC_000014.7:g.23779608C>G	NCBI36
NG_016650.1:g.7113G>C
NG_054634.1:g.13146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1221G>C
ENST00000557921.3:c.810G>C	ENSP00000453157.3:p.Lys270Asn
ENST00000699682.1:n.1308G>C
ENST00000699683.1:n.1358G>C
ENST00000699684.1:c.*511G>C	ENSP00000514523.1:n.*511G>C
ENST00000699685.1:n.1122G>C
ENST00000699686.1:c.711G>C	ENSP00000514524.1:p.Lys237Asn
ENST00000699687.1:c.813G>C	ENSP00000514525.1:p.Lys271Asn
ENST00000699688.1:n.1118G>C
ENST00000699689.1:n.1474G>C
ENST00000699690.1:n.1671G>C
ENST00000699691.1:n.1815G>C
ENST00000699693.1:n.1335G>C
ENST00000699694.1:n.1577G>C
ENST00000699695.1:c.*290G>C	ENSP00000514526.1:n.*290G>C
ENST00000699696.1:n.1221G>C
ENST00000699697.1:c.918G>C	ENSP00000514527.1:p.Lys306Asn
ENST00000699698.1:n.839G>C
ENST00000699699.1:n.1242G>C
ENST00000699700.1:n.1365G>C
ENST00000699701.1:c.*298G>C	ENSP00000514528.1:n.*298G>C
ENST00000267415.12:c.918G>C MANE Select	ENSP00000267415.7:p.Lys306Asn
ENST00000557921.2:c.810G>C	ENSP00000453157.2:p.Lys270Asn
ENST00000646753.1:c.813G>C	ENSP00000494065.1:p.Lys271Asn
ENST00000267415.11:c.918G>C	ENSP00000267415.7:p.Lys306Asn
ENST00000399423.8:c.918G>C	ENSP00000382350.4:p.Lys306Asn
ENST00000557915.1:n.37G>C
ENST00000558566.1:c.*290G>C	ENSP00000453025.1:n.*290G>C
ENST00000559019.1:c.*290G>C	ENSP00000453675.1:n.*290G>C
ENST00000559969.5:c.758-82G>C
ENST00000626689.2:c.*290G>C	ENSP00000486681.1:n.*290G>C
NM_001099274.1:c.918G>C	NP_001092744.1:p.Lys306Asn
NM_012461.2:c.918G>C	NP_036593.2:p.Lys306Asn
XM_005267528.2:c.918G>C	XP_005267585.1:p.Lys306Asn
XM_005267529.2:c.813G>C	XP_005267586.1:p.Lys271Asn
NM_001099274.2:c.918G>C	NP_001092744.1:p.Lys306Asn
NM_001363668.1:c.813G>C	NP_001350597.1:p.Lys271Asn
NM_012461.3:c.918G>C	NP_036593.2:p.Lys306Asn
XM_011536642.2:c.*298G>C	XP_011534944.1:n.*298G>C
XM_017021216.2:c.276G>C	XP_016876705.1:p.Lys92Asn
XM_017021217.1:c.276G>C	XP_016876706.1:p.Lys92Asn
NM_001099274.3:c.918G>C MANE Select	NP_001092744.1:p.Lys306Asn
NM_001363668.2:c.813G>C	NP_001350597.1:p.Lys271Asn