Canonical Allele Identifier: CA7130490

Gene: TINF2

Linked Data

• dbSNP Id: rs757622323
• ExAC: 14:24709427 A / C
• gnomAD v2: 14-24709427-A-C
• gnomAD v4: 14-24240221-A-C
• MyVariant Identifiers: chr14:g.24709427A>C (hg19) ; chr14:g.24240221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240221A>C , CM000676.2:g.24240221A>C	GRCh38
NC_000014.8:g.24709427A>C , CM000676.1:g.24709427A>C	GRCh37
NC_000014.7:g.23779267A>C	NCBI36
NG_016650.1:g.7454T>G
NG_054634.1:g.12805A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+42T>G
ENST00000557921.3:c.*194T>G	ENSP00000453157.3:n.*194T>G
ENST00000699682.1:n.1649T>G
ENST00000699683.1:n.1699T>G
ENST00000699684.1:c.*852T>G	ENSP00000514523.1:n.*852T>G
ENST00000699685.1:n.1463T>G
ENST00000699686.1:c.*194T>G	ENSP00000514524.1:n.*194T>G
ENST00000699687.1:c.*194T>G	ENSP00000514525.1:n.*194T>G
ENST00000699688.1:n.1459T>G
ENST00000699689.1:n.1815T>G
ENST00000699690.1:n.2012T>G
ENST00000699691.1:n.2156T>G
ENST00000699692.1:n.69-38T>G
ENST00000699693.1:n.1546+42T>G
ENST00000699694.1:n.1918T>G
ENST00000699695.1:c.*501+42T>G	ENSP00000514526.1:n.*501+42T>G
ENST00000699696.1:n.1520+42T>G
ENST00000699697.1:c.*34T>G	ENSP00000514527.1:n.*34T>G
ENST00000699698.1:n.1092T>G
ENST00000699699.1:n.1583T>G
ENST00000699700.1:n.1706T>G
ENST00000699701.1:c.*639T>G	ENSP00000514528.1:n.*639T>G
ENST00000267415.12:c.1129+42T>G MANE Select	ENSP00000267415.7:n.1129+42T>G
ENST00000646753.1:c.1024+42T>G	ENSP00000494065.1:n.1024+42T>G
ENST00000267415.11:c.1129+42T>G	ENSP00000267415.7:n.1129+42T>G
ENST00000399423.8:c.*194T>G	ENSP00000382350.4:n.*194T>G
ENST00000557915.1:n.336+42T>G
ENST00000558566.1:c.*631T>G	ENSP00000453025.1:n.*631T>G
ENST00000558703.1:n.22T>G
ENST00000559969.5:c.1017T>G
ENST00000560019.5:c.124+42T>G	ENSP00000453113.1:n.124+42T>G
ENST00000626689.2:c.*501+42T>G	ENSP00000486681.1:n.*501+42T>G
NM_001099274.1:c.1129+42T>G	NP_001092744.1:n.1129+42T>G
NM_012461.2:c.*194T>G	NP_036593.2:n.*194T>G
XM_005267528.2:c.1129+42T>G	XP_005267585.1:n.1129+42T>G
XM_005267529.2:c.1024+42T>G	XP_005267586.1:n.1024+42T>G
NM_001099274.2:c.1129+42T>G	NP_001092744.1:n.1129+42T>G
NM_001363668.1:c.1024+42T>G	NP_001350597.1:n.1024+42T>G
NM_012461.3:c.*194T>G	NP_036593.2:n.*194T>G
XM_011536642.2:c.*639T>G	XP_011534944.1:n.*639T>G
XM_017021216.2:c.487+42T>G	XP_016876705.1:n.487+42T>G
XM_017021217.1:c.487+42T>G	XP_016876706.1:n.487+42T>G
NM_001099274.3:c.1129+42T>G MANE Select	NP_001092744.1:n.1129+42T>G
NM_001363668.2:c.1024+42T>G	NP_001350597.1:n.1024+42T>G