Canonical Allele Identifier: CA613320512

Gene: TINF2

Linked Data

• dbSNP Id: rs1230544279
• gnomAD v2: 14-24709372-G-A
• gnomAD v4: 14-24240166-G-A
• MyVariant Identifiers: chr14:g.24709372G>A (hg19) ; chr14:g.24240166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240166G>A , CM000676.2:g.24240166G>A	GRCh38
NC_000014.8:g.24709372G>A , CM000676.1:g.24709372G>A	GRCh37
NC_000014.7:g.23779212G>A	NCBI36
NG_016650.1:g.7509C>T
NG_054634.1:g.12750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1521-11C>T
ENST00000557921.3:c.*249C>T	ENSP00000453157.3:n.*249C>T
ENST00000699682.1:n.1704C>T
ENST00000699683.1:n.1754C>T
ENST00000699684.1:c.*907C>T	ENSP00000514523.1:n.*907C>T
ENST00000699685.1:n.1518C>T
ENST00000699686.1:c.*249C>T	ENSP00000514524.1:n.*249C>T
ENST00000699687.1:c.*249C>T	ENSP00000514525.1:n.*249C>T
ENST00000699688.1:n.1514C>T
ENST00000699689.1:n.1870C>T
ENST00000699690.1:n.2067C>T
ENST00000699691.1:n.2211C>T
ENST00000699692.1:n.86C>T
ENST00000699693.1:n.1547-11C>T
ENST00000699694.1:n.1973C>T
ENST00000699695.1:c.*502-11C>T	ENSP00000514526.1:n.*502-11C>T
ENST00000699696.1:n.1521-11C>T
ENST00000699697.1:c.*89C>T	ENSP00000514527.1:n.*89C>T
ENST00000699698.1:n.1147C>T
ENST00000699699.1:n.1638C>T
ENST00000699700.1:n.1761C>T
ENST00000699701.1:c.*694C>T	ENSP00000514528.1:n.*694C>T
ENST00000267415.12:c.1130-11C>T MANE Select	ENSP00000267415.7:n.1130-11C>T
ENST00000646753.1:c.1025-11C>T	ENSP00000494065.1:n.1025-11C>T
ENST00000267415.11:c.1130-11C>T	ENSP00000267415.7:n.1130-11C>T
ENST00000399423.8:c.*249C>T	ENSP00000382350.4:n.*249C>T
ENST00000557915.1:n.337-11C>T
ENST00000558566.1:c.*686C>T	ENSP00000453025.1:n.*686C>T
ENST00000558703.1:n.77C>T
ENST00000559969.5:c.1072C>T
ENST00000560019.5:c.125-11C>T	ENSP00000453113.1:n.125-11C>T
ENST00000626689.2:c.*502-11C>T	ENSP00000486681.1:n.*502-11C>T
NM_001099274.1:c.1130-11C>T	NP_001092744.1:n.1130-11C>T
NM_012461.2:c.*249C>T	NP_036593.2:n.*249C>T
XM_005267528.2:c.1130-11C>T	XP_005267585.1:n.1130-11C>T
XM_005267529.2:c.1025-11C>T	XP_005267586.1:n.1025-11C>T
NM_001099274.2:c.1130-11C>T	NP_001092744.1:n.1130-11C>T
NM_001363668.1:c.1025-11C>T	NP_001350597.1:n.1025-11C>T
NM_012461.3:c.*249C>T	NP_036593.2:n.*249C>T
XM_011536642.2:c.*694C>T	XP_011534944.1:n.*694C>T
XM_017021216.2:c.488-11C>T	XP_016876705.1:n.488-11C>T
XM_017021217.1:c.488-11C>T	XP_016876706.1:n.488-11C>T
NM_001099274.3:c.1130-11C>T MANE Select	NP_001092744.1:n.1130-11C>T
NM_001363668.2:c.1025-11C>T	NP_001350597.1:n.1025-11C>T