Canonical Allele Identifier: CA961132824

Gene: TINF2

Linked Data

• dbSNP Id: rs2040541083
• gnomAD v3: 14-24240252-A-G
• gnomAD v4: 14-24240252-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240252A>G , CM000676.2:g.24240252A>G	GRCh38
NC_000014.8:g.24709458A>G , CM000676.1:g.24709458A>G	GRCh37
NC_000014.7:g.23779298A>G	NCBI36
NG_016650.1:g.7423T>C
NG_054634.1:g.12836A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+11T>C
ENST00000557921.3:c.*163T>C	ENSP00000453157.3:n.*163T>C
ENST00000699682.1:n.1618T>C
ENST00000699683.1:n.1668T>C
ENST00000699684.1:c.*821T>C	ENSP00000514523.1:n.*821T>C
ENST00000699685.1:n.1432T>C
ENST00000699686.1:c.*163T>C	ENSP00000514524.1:n.*163T>C
ENST00000699687.1:c.*163T>C	ENSP00000514525.1:n.*163T>C
ENST00000699688.1:n.1428T>C
ENST00000699689.1:n.1784T>C
ENST00000699690.1:n.1981T>C
ENST00000699691.1:n.2125T>C
ENST00000699692.1:n.68+11T>C
ENST00000699693.1:n.1546+11T>C
ENST00000699694.1:n.1887T>C
ENST00000699695.1:c.*501+11T>C	ENSP00000514526.1:n.*501+11T>C
ENST00000699696.1:n.1520+11T>C
ENST00000699697.1:c.*3T>C	ENSP00000514527.1:n.*3T>C
ENST00000699698.1:n.1061T>C
ENST00000699699.1:n.1552T>C
ENST00000699700.1:n.1675T>C
ENST00000699701.1:c.*608T>C	ENSP00000514528.1:n.*608T>C
ENST00000267415.12:c.1129+11T>C MANE Select	ENSP00000267415.7:n.1129+11T>C
ENST00000646753.1:c.1024+11T>C	ENSP00000494065.1:n.1024+11T>C
ENST00000267415.11:c.1129+11T>C	ENSP00000267415.7:n.1129+11T>C
ENST00000399423.8:c.*163T>C	ENSP00000382350.4:n.*163T>C
ENST00000557915.1:n.336+11T>C
ENST00000558566.1:c.*600T>C	ENSP00000453025.1:n.*600T>C
ENST00000559969.5:c.986T>C
ENST00000560019.5:c.124+11T>C	ENSP00000453113.1:n.124+11T>C
ENST00000626689.2:c.*501+11T>C	ENSP00000486681.1:n.*501+11T>C
NM_001099274.1:c.1129+11T>C	NP_001092744.1:n.1129+11T>C
NM_012461.2:c.*163T>C	NP_036593.2:n.*163T>C
XM_005267528.2:c.1129+11T>C	XP_005267585.1:n.1129+11T>C
XM_005267529.2:c.1024+11T>C	XP_005267586.1:n.1024+11T>C
NM_001099274.2:c.1129+11T>C	NP_001092744.1:n.1129+11T>C
NM_001363668.1:c.1024+11T>C	NP_001350597.1:n.1024+11T>C
NM_012461.3:c.*163T>C	NP_036593.2:n.*163T>C
XM_011536642.2:c.*608T>C	XP_011534944.1:n.*608T>C
XM_017021216.2:c.487+11T>C	XP_016876705.1:n.487+11T>C
XM_017021217.1:c.487+11T>C	XP_016876706.1:n.487+11T>C
NM_001099274.3:c.1129+11T>C MANE Select	NP_001092744.1:n.1129+11T>C
NM_001363668.2:c.1024+11T>C	NP_001350597.1:n.1024+11T>C