Canonical Allele Identifier: CA485782108

Gene: TINF2

Linked Data

• dbSNP Id: rs1343222380
• gnomAD v2: 14-24709485-A-G
• gnomAD v4: 14-24240279-A-G
• MyVariant Identifiers: chr14:g.24709485A>G (hg19) ; chr14:g.24240279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240279A>G , CM000676.2:g.24240279A>G	GRCh38
NC_000014.8:g.24709485A>G , CM000676.1:g.24709485A>G	GRCh37
NC_000014.7:g.23779325A>G	NCBI36
NG_016650.1:g.7396T>C
NG_054634.1:g.12863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1504T>C
ENST00000557921.3:c.*136T>C	ENSP00000453157.3:n.*136T>C
ENST00000699682.1:n.1591T>C
ENST00000699683.1:n.1641T>C
ENST00000699684.1:c.*794T>C	ENSP00000514523.1:n.*794T>C
ENST00000699685.1:n.1405T>C
ENST00000699686.1:c.*136T>C	ENSP00000514524.1:n.*136T>C
ENST00000699687.1:c.*136T>C	ENSP00000514525.1:n.*136T>C
ENST00000699688.1:n.1401T>C
ENST00000699689.1:n.1757T>C
ENST00000699690.1:n.1954T>C
ENST00000699691.1:n.2098T>C
ENST00000699692.1:n.52T>C
ENST00000699693.1:n.1530T>C
ENST00000699694.1:n.1860T>C
ENST00000699695.1:c.*485T>C	ENSP00000514526.1:n.*485T>C
ENST00000699696.1:n.1504T>C
ENST00000699697.1:c.1113T>C	ENSP00000514527.1:p.Pro371=
ENST00000699698.1:n.1034T>C
ENST00000699699.1:n.1525T>C
ENST00000699700.1:n.1648T>C
ENST00000699701.1:c.*581T>C	ENSP00000514528.1:n.*581T>C
ENST00000267415.12:c.1113T>C MANE Select	ENSP00000267415.7:p.Pro371=
ENST00000646753.1:c.1008T>C	ENSP00000494065.1:p.Pro336=
ENST00000267415.11:c.1113T>C	ENSP00000267415.7:p.Pro371=
ENST00000399423.8:c.*136T>C	ENSP00000382350.4:n.*136T>C
ENST00000557915.1:n.320T>C
ENST00000558566.1:c.*573T>C	ENSP00000453025.1:n.*573T>C
ENST00000559969.5:c.959T>C
ENST00000560019.5:c.108T>C	ENSP00000453113.1:p.Pro36=
ENST00000626689.2:c.*485T>C	ENSP00000486681.1:n.*485T>C
NM_001099274.1:c.1113T>C	NP_001092744.1:p.Pro371=
NM_012461.2:c.*136T>C	NP_036593.2:n.*136T>C
XM_005267528.2:c.1113T>C	XP_005267585.1:p.Pro371=
XM_005267529.2:c.1008T>C	XP_005267586.1:p.Pro336=
NM_001099274.2:c.1113T>C	NP_001092744.1:p.Pro371=
NM_001363668.1:c.1008T>C	NP_001350597.1:p.Pro336=
NM_012461.3:c.*136T>C	NP_036593.2:n.*136T>C
XM_011536642.2:c.*581T>C	XP_011534944.1:n.*581T>C
XM_017021216.2:c.471T>C	XP_016876705.1:p.Pro157=
XM_017021217.1:c.471T>C	XP_016876706.1:p.Pro157=
NM_001099274.3:c.1113T>C MANE Select	NP_001092744.1:p.Pro371=
NM_001363668.2:c.1008T>C	NP_001350597.1:p.Pro336=