Canonical Allele Identifier: CA2624345088

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240249-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240249C>G , CM000676.2:g.24240249C>G	GRCh38
NC_000014.8:g.24709455C>G , CM000676.1:g.24709455C>G	GRCh37
NC_000014.7:g.23779295C>G	NCBI36
NG_016650.1:g.7426G>C
NG_054634.1:g.12833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+14G>C
ENST00000557921.3:c.*166G>C	ENSP00000453157.3:n.*166G>C
ENST00000699682.1:n.1621G>C
ENST00000699683.1:n.1671G>C
ENST00000699684.1:c.*824G>C	ENSP00000514523.1:n.*824G>C
ENST00000699685.1:n.1435G>C
ENST00000699686.1:c.*166G>C	ENSP00000514524.1:n.*166G>C
ENST00000699687.1:c.*166G>C	ENSP00000514525.1:n.*166G>C
ENST00000699688.1:n.1431G>C
ENST00000699689.1:n.1787G>C
ENST00000699690.1:n.1984G>C
ENST00000699691.1:n.2128G>C
ENST00000699692.1:n.68+14G>C
ENST00000699693.1:n.1546+14G>C
ENST00000699694.1:n.1890G>C
ENST00000699695.1:c.*501+14G>C	ENSP00000514526.1:n.*501+14G>C
ENST00000699696.1:n.1520+14G>C
ENST00000699697.1:c.*6G>C	ENSP00000514527.1:n.*6G>C
ENST00000699698.1:n.1064G>C
ENST00000699699.1:n.1555G>C
ENST00000699700.1:n.1678G>C
ENST00000699701.1:c.*611G>C	ENSP00000514528.1:n.*611G>C
ENST00000267415.12:c.1129+14G>C MANE Select	ENSP00000267415.7:n.1129+14G>C
ENST00000646753.1:c.1024+14G>C	ENSP00000494065.1:n.1024+14G>C
ENST00000267415.11:c.1129+14G>C	ENSP00000267415.7:n.1129+14G>C
ENST00000399423.8:c.*166G>C	ENSP00000382350.4:n.*166G>C
ENST00000557915.1:n.336+14G>C
ENST00000558566.1:c.*603G>C	ENSP00000453025.1:n.*603G>C
ENST00000559969.5:c.989G>C
ENST00000560019.5:c.124+14G>C	ENSP00000453113.1:n.124+14G>C
ENST00000626689.2:c.*501+14G>C	ENSP00000486681.1:n.*501+14G>C
NM_001099274.1:c.1129+14G>C	NP_001092744.1:n.1129+14G>C
NM_012461.2:c.*166G>C	NP_036593.2:n.*166G>C
XM_005267528.2:c.1129+14G>C	XP_005267585.1:n.1129+14G>C
XM_005267529.2:c.1024+14G>C	XP_005267586.1:n.1024+14G>C
NM_001099274.2:c.1129+14G>C	NP_001092744.1:n.1129+14G>C
NM_001363668.1:c.1024+14G>C	NP_001350597.1:n.1024+14G>C
NM_012461.3:c.*166G>C	NP_036593.2:n.*166G>C
XM_011536642.2:c.*611G>C	XP_011534944.1:n.*611G>C
XM_017021216.2:c.487+14G>C	XP_016876705.1:n.487+14G>C
XM_017021217.1:c.487+14G>C	XP_016876706.1:n.487+14G>C
NM_001099274.3:c.1129+14G>C MANE Select	NP_001092744.1:n.1129+14G>C
NM_001363668.2:c.1024+14G>C	NP_001350597.1:n.1024+14G>C