Canonical Allele Identifier: CA7130484

Gene: TINF2

Linked Data

• dbSNP Id: rs767124746
• ExAC: 14:24709394 T / G
• gnomAD v2: 14-24709394-T-G
• MyVariant Identifiers: chr14:g.24709394T>G (hg19) ; chr14:g.24240188T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240188T>G , CM000676.2:g.24240188T>G	GRCh38
NC_000014.8:g.24709394T>G , CM000676.1:g.24709394T>G	GRCh37
NC_000014.7:g.23779234T>G	NCBI36
NG_016650.1:g.7487A>C
NG_054634.1:g.12772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1521-33A>C
ENST00000557921.3:c.*227A>C	ENSP00000453157.3:n.*227A>C
ENST00000699682.1:n.1682A>C
ENST00000699683.1:n.1732A>C
ENST00000699684.1:c.*885A>C	ENSP00000514523.1:n.*885A>C
ENST00000699685.1:n.1496A>C
ENST00000699686.1:c.*227A>C	ENSP00000514524.1:n.*227A>C
ENST00000699687.1:c.*227A>C	ENSP00000514525.1:n.*227A>C
ENST00000699688.1:n.1492A>C
ENST00000699689.1:n.1848A>C
ENST00000699690.1:n.2045A>C
ENST00000699691.1:n.2189A>C
ENST00000699692.1:n.69-5A>C
ENST00000699693.1:n.1547-33A>C
ENST00000699694.1:n.1951A>C
ENST00000699695.1:c.*502-33A>C	ENSP00000514526.1:n.*502-33A>C
ENST00000699696.1:n.1521-33A>C
ENST00000699697.1:c.*67A>C	ENSP00000514527.1:n.*67A>C
ENST00000699698.1:n.1125A>C
ENST00000699699.1:n.1616A>C
ENST00000699700.1:n.1739A>C
ENST00000699701.1:c.*672A>C	ENSP00000514528.1:n.*672A>C
ENST00000267415.12:c.1130-33A>C MANE Select	ENSP00000267415.7:n.1130-33A>C
ENST00000646753.1:c.1025-33A>C	ENSP00000494065.1:n.1025-33A>C
ENST00000267415.11:c.1130-33A>C	ENSP00000267415.7:n.1130-33A>C
ENST00000399423.8:c.*227A>C	ENSP00000382350.4:n.*227A>C
ENST00000557915.1:n.337-33A>C
ENST00000558566.1:c.*664A>C	ENSP00000453025.1:n.*664A>C
ENST00000558703.1:n.55A>C
ENST00000559969.5:c.1050A>C
ENST00000560019.5:c.125-33A>C	ENSP00000453113.1:n.125-33A>C
ENST00000626689.2:c.*502-33A>C	ENSP00000486681.1:n.*502-33A>C
NM_001099274.1:c.1130-33A>C	NP_001092744.1:n.1130-33A>C
NM_012461.2:c.*227A>C	NP_036593.2:n.*227A>C
XM_005267528.2:c.1130-33A>C	XP_005267585.1:n.1130-33A>C
XM_005267529.2:c.1025-33A>C	XP_005267586.1:n.1025-33A>C
NM_001099274.2:c.1130-33A>C	NP_001092744.1:n.1130-33A>C
NM_001363668.1:c.1025-33A>C	NP_001350597.1:n.1025-33A>C
NM_012461.3:c.*227A>C	NP_036593.2:n.*227A>C
XM_011536642.2:c.*672A>C	XP_011534944.1:n.*672A>C
XM_017021216.2:c.488-33A>C	XP_016876705.1:n.488-33A>C
XM_017021217.1:c.488-33A>C	XP_016876706.1:n.488-33A>C
NM_001099274.3:c.1130-33A>C MANE Select	NP_001092744.1:n.1130-33A>C
NM_001363668.2:c.1025-33A>C	NP_001350597.1:n.1025-33A>C