Canonical Allele Identifier: CA389223712

Gene: TINF2

Linked Data

• ClinVar Variation Id: 2007665
• ClinVar RCV Id: RCV002833281
• MyVariant Identifiers: chr14:g.24709674T>C (hg19) ; chr14:g.24240468T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240468T>C , CM000676.2:g.24240468T>C	GRCh38
NC_000014.8:g.24709674T>C , CM000676.1:g.24709674T>C	GRCh37
NC_000014.7:g.23779514T>C	NCBI36
NG_016650.1:g.7207A>G
NG_054634.1:g.13052T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1315A>G
ENST00000557921.3:c.904A>G	ENSP00000453157.3:p.Arg302Gly
ENST00000699682.1:n.1402A>G
ENST00000699683.1:n.1452A>G
ENST00000699684.1:c.*605A>G	ENSP00000514523.1:n.*605A>G
ENST00000699685.1:n.1216A>G
ENST00000699686.1:c.805A>G	ENSP00000514524.1:p.Arg269Gly
ENST00000699687.1:c.907A>G	ENSP00000514525.1:p.Arg303Gly
ENST00000699688.1:n.1212A>G
ENST00000699689.1:n.1568A>G
ENST00000699690.1:n.1765A>G
ENST00000699691.1:n.1909A>G
ENST00000699693.1:n.1429A>G
ENST00000699694.1:n.1671A>G
ENST00000699695.1:c.*384A>G	ENSP00000514526.1:n.*384A>G
ENST00000699696.1:n.1315A>G
ENST00000699697.1:c.1012A>G	ENSP00000514527.1:p.Arg338Gly
ENST00000699698.1:n.933A>G
ENST00000699699.1:n.1336A>G
ENST00000699700.1:n.1459A>G
ENST00000699701.1:c.*392A>G	ENSP00000514528.1:n.*392A>G
ENST00000267415.12:c.1012A>G MANE Select	ENSP00000267415.7:p.Arg338Gly
ENST00000646753.1:c.907A>G	ENSP00000494065.1:p.Arg303Gly
ENST00000267415.11:c.1012A>G	ENSP00000267415.7:p.Arg338Gly
ENST00000399423.8:c.1012A>G	ENSP00000382350.4:p.Arg338Gly
ENST00000557915.1:n.131A>G
ENST00000558566.1:c.*384A>G	ENSP00000453025.1:n.*384A>G
ENST00000559969.5:c.770A>G
ENST00000560019.5:c.7A>G	ENSP00000453113.1:p.Arg3Gly
ENST00000626689.2:c.*384A>G	ENSP00000486681.1:n.*384A>G
NM_001099274.1:c.1012A>G	NP_001092744.1:p.Arg338Gly
NM_012461.2:c.1012A>G	NP_036593.2:p.Arg338Gly
XM_005267528.2:c.1012A>G	XP_005267585.1:p.Arg338Gly
XM_005267529.2:c.907A>G	XP_005267586.1:p.Arg303Gly
NM_001099274.2:c.1012A>G	NP_001092744.1:p.Arg338Gly
NM_001363668.1:c.907A>G	NP_001350597.1:p.Arg303Gly
NM_012461.3:c.1012A>G	NP_036593.2:p.Arg338Gly
XM_011536642.2:c.*392A>G	XP_011534944.1:n.*392A>G
XM_017021216.2:c.370A>G	XP_016876705.1:p.Arg124Gly
XM_017021217.1:c.370A>G	XP_016876706.1:p.Arg124Gly
NM_001099274.3:c.1012A>G MANE Select	NP_001092744.1:p.Arg338Gly
NM_001363668.2:c.907A>G	NP_001350597.1:p.Arg303Gly