Canonical Allele Identifier: CA389222371

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709467A>G (hg19) ; chr14:g.24240261A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240261A>G , CM000676.2:g.24240261A>G	GRCh38
NC_000014.8:g.24709467A>G , CM000676.1:g.24709467A>G	GRCh37
NC_000014.7:g.23779307A>G	NCBI36
NG_016650.1:g.7414T>C
NG_054634.1:g.12845A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+2T>C
ENST00000557921.3:c.*154T>C	ENSP00000453157.3:n.*154T>C
ENST00000699682.1:n.1609T>C
ENST00000699683.1:n.1659T>C
ENST00000699684.1:c.*812T>C	ENSP00000514523.1:n.*812T>C
ENST00000699685.1:n.1423T>C
ENST00000699686.1:c.*154T>C	ENSP00000514524.1:n.*154T>C
ENST00000699687.1:c.*154T>C	ENSP00000514525.1:n.*154T>C
ENST00000699688.1:n.1419T>C
ENST00000699689.1:n.1775T>C
ENST00000699690.1:n.1972T>C
ENST00000699691.1:n.2116T>C
ENST00000699692.1:n.68+2T>C
ENST00000699693.1:n.1546+2T>C
ENST00000699694.1:n.1878T>C
ENST00000699695.1:c.*501+2T>C	ENSP00000514526.1:n.*501+2T>C
ENST00000699696.1:n.1520+2T>C
ENST00000699697.1:c.1131T>C	ENSP00000514527.1:p.Gly377=
ENST00000699698.1:n.1052T>C
ENST00000699699.1:n.1543T>C
ENST00000699700.1:n.1666T>C
ENST00000699701.1:c.*599T>C	ENSP00000514528.1:n.*599T>C
ENST00000267415.12:c.1129+2T>C MANE Select	ENSP00000267415.7:n.1129+2T>C
ENST00000646753.1:c.1024+2T>C	ENSP00000494065.1:n.1024+2T>C
ENST00000267415.11:c.1129+2T>C	ENSP00000267415.7:n.1129+2T>C
ENST00000399423.8:c.*154T>C	ENSP00000382350.4:n.*154T>C
ENST00000557915.1:n.336+2T>C
ENST00000558566.1:c.*591T>C	ENSP00000453025.1:n.*591T>C
ENST00000559969.5:c.977T>C
ENST00000560019.5:c.124+2T>C	ENSP00000453113.1:n.124+2T>C
ENST00000626689.2:c.*501+2T>C	ENSP00000486681.1:n.*501+2T>C
NM_001099274.1:c.1129+2T>C	NP_001092744.1:n.1129+2T>C
NM_012461.2:c.*154T>C	NP_036593.2:n.*154T>C
XM_005267528.2:c.1129+2T>C	XP_005267585.1:n.1129+2T>C
XM_005267529.2:c.1024+2T>C	XP_005267586.1:n.1024+2T>C
NM_001099274.2:c.1129+2T>C	NP_001092744.1:n.1129+2T>C
NM_001363668.1:c.1024+2T>C	NP_001350597.1:n.1024+2T>C
NM_012461.3:c.*154T>C	NP_036593.2:n.*154T>C
XM_011536642.2:c.*599T>C	XP_011534944.1:n.*599T>C
XM_017021216.2:c.487+2T>C	XP_016876705.1:n.487+2T>C
XM_017021217.1:c.487+2T>C	XP_016876706.1:n.487+2T>C
NM_001099274.3:c.1129+2T>C MANE Select	NP_001092744.1:n.1129+2T>C
NM_001363668.2:c.1024+2T>C	NP_001350597.1:n.1024+2T>C