Canonical Allele Identifier: CA2575493625

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1974557
• ClinVar RCV Id: RCV002741459

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240348A>G , CM000676.2:g.24240348A>G	GRCh38
NC_000014.8:g.24709554A>G , CM000676.1:g.24709554A>G	GRCh37
NC_000014.7:g.23779394A>G	NCBI36
NG_016650.1:g.7327T>C
NG_054634.1:g.12932A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1435T>C
ENST00000557921.3:c.*67T>C	ENSP00000453157.3:n.*67T>C
ENST00000699682.1:n.1522T>C
ENST00000699683.1:n.1572T>C
ENST00000699684.1:c.*725T>C	ENSP00000514523.1:n.*725T>C
ENST00000699685.1:n.1336T>C
ENST00000699686.1:c.*67T>C	ENSP00000514524.1:n.*67T>C
ENST00000699687.1:c.*67T>C	ENSP00000514525.1:n.*67T>C
ENST00000699688.1:n.1332T>C
ENST00000699689.1:n.1688T>C
ENST00000699690.1:n.1885T>C
ENST00000699691.1:n.2029T>C
ENST00000699693.1:n.1479-18T>C
ENST00000699694.1:n.1791T>C
ENST00000699695.1:c.*434-18T>C	ENSP00000514526.1:n.*434-18T>C
ENST00000699696.1:n.1435T>C
ENST00000699697.1:c.1062-18T>C	ENSP00000514527.1:n.1062-18T>C
ENST00000699698.1:n.983-18T>C
ENST00000699699.1:n.1456T>C
ENST00000699700.1:n.1579T>C
ENST00000699701.1:c.*512T>C	ENSP00000514528.1:n.*512T>C
ENST00000267415.12:c.1062-18T>C MANE Select	ENSP00000267415.7:n.1062-18T>C
ENST00000646753.1:c.957-18T>C	ENSP00000494065.1:n.957-18T>C
ENST00000267415.11:c.1062-18T>C	ENSP00000267415.7:n.1062-18T>C
ENST00000399423.8:c.*67T>C	ENSP00000382350.4:n.*67T>C
ENST00000557915.1:n.251T>C
ENST00000558566.1:c.*504T>C	ENSP00000453025.1:n.*504T>C
ENST00000559969.5:c.890T>C
ENST00000560019.5:c.57-18T>C	ENSP00000453113.1:n.57-18T>C
ENST00000626689.2:c.*434-18T>C	ENSP00000486681.1:n.*434-18T>C
NM_001099274.1:c.1062-18T>C	NP_001092744.1:n.1062-18T>C
NM_012461.2:c.*67T>C	NP_036593.2:n.*67T>C
XM_005267528.2:c.1062-18T>C	XP_005267585.1:n.1062-18T>C
XM_005267529.2:c.957-18T>C	XP_005267586.1:n.957-18T>C
NM_001099274.2:c.1062-18T>C	NP_001092744.1:n.1062-18T>C
NM_001363668.1:c.957-18T>C	NP_001350597.1:n.957-18T>C
NM_012461.3:c.*67T>C	NP_036593.2:n.*67T>C
XM_011536642.2:c.*512T>C	XP_011534944.1:n.*512T>C
XM_017021216.2:c.420-18T>C	XP_016876705.1:n.420-18T>C
XM_017021217.1:c.420-18T>C	XP_016876706.1:n.420-18T>C
NM_001099274.3:c.1062-18T>C MANE Select	NP_001092744.1:n.1062-18T>C
NM_001363668.2:c.957-18T>C	NP_001350597.1:n.957-18T>C