Canonical Allele Identifier: CA2624345084

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240226-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240226G>A , CM000676.2:g.24240226G>A	GRCh38
NC_000014.8:g.24709432G>A , CM000676.1:g.24709432G>A	GRCh37
NC_000014.7:g.23779272G>A	NCBI36
NG_016650.1:g.7449C>T
NG_054634.1:g.12810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+37C>T
ENST00000557921.3:c.*189C>T	ENSP00000453157.3:n.*189C>T
ENST00000699682.1:n.1644C>T
ENST00000699683.1:n.1694C>T
ENST00000699684.1:c.*847C>T	ENSP00000514523.1:n.*847C>T
ENST00000699685.1:n.1458C>T
ENST00000699686.1:c.*189C>T	ENSP00000514524.1:n.*189C>T
ENST00000699687.1:c.*189C>T	ENSP00000514525.1:n.*189C>T
ENST00000699688.1:n.1454C>T
ENST00000699689.1:n.1810C>T
ENST00000699690.1:n.2007C>T
ENST00000699691.1:n.2151C>T
ENST00000699692.1:n.68+37C>T
ENST00000699693.1:n.1546+37C>T
ENST00000699694.1:n.1913C>T
ENST00000699695.1:c.*501+37C>T	ENSP00000514526.1:n.*501+37C>T
ENST00000699696.1:n.1520+37C>T
ENST00000699697.1:c.*29C>T	ENSP00000514527.1:n.*29C>T
ENST00000699698.1:n.1087C>T
ENST00000699699.1:n.1578C>T
ENST00000699700.1:n.1701C>T
ENST00000699701.1:c.*634C>T	ENSP00000514528.1:n.*634C>T
ENST00000267415.12:c.1129+37C>T MANE Select	ENSP00000267415.7:n.1129+37C>T
ENST00000646753.1:c.1024+37C>T	ENSP00000494065.1:n.1024+37C>T
ENST00000267415.11:c.1129+37C>T	ENSP00000267415.7:n.1129+37C>T
ENST00000399423.8:c.*189C>T	ENSP00000382350.4:n.*189C>T
ENST00000557915.1:n.336+37C>T
ENST00000558566.1:c.*626C>T	ENSP00000453025.1:n.*626C>T
ENST00000558703.1:n.17C>T
ENST00000559969.5:c.1012C>T
ENST00000560019.5:c.124+37C>T	ENSP00000453113.1:n.124+37C>T
ENST00000626689.2:c.*501+37C>T	ENSP00000486681.1:n.*501+37C>T
NM_001099274.1:c.1129+37C>T	NP_001092744.1:n.1129+37C>T
NM_012461.2:c.*189C>T	NP_036593.2:n.*189C>T
XM_005267528.2:c.1129+37C>T	XP_005267585.1:n.1129+37C>T
XM_005267529.2:c.1024+37C>T	XP_005267586.1:n.1024+37C>T
NM_001099274.2:c.1129+37C>T	NP_001092744.1:n.1129+37C>T
NM_001363668.1:c.1024+37C>T	NP_001350597.1:n.1024+37C>T
NM_012461.3:c.*189C>T	NP_036593.2:n.*189C>T
XM_011536642.2:c.*634C>T	XP_011534944.1:n.*634C>T
XM_017021216.2:c.487+37C>T	XP_016876705.1:n.487+37C>T
XM_017021217.1:c.487+37C>T	XP_016876706.1:n.487+37C>T
NM_001099274.3:c.1129+37C>T MANE Select	NP_001092744.1:n.1129+37C>T
NM_001363668.2:c.1024+37C>T	NP_001350597.1:n.1024+37C>T