Canonical Allele Identifier: CA389223629

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709663C>G (hg19) ; chr14:g.24240457C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240457C>G , CM000676.2:g.24240457C>G	GRCh38
NC_000014.8:g.24709663C>G , CM000676.1:g.24709663C>G	GRCh37
NC_000014.7:g.23779503C>G	NCBI36
NG_016650.1:g.7218G>C
NG_054634.1:g.13041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1326G>C
ENST00000557921.3:c.915G>C	ENSP00000453157.3:p.Lys305Asn
ENST00000699682.1:n.1413G>C
ENST00000699683.1:n.1463G>C
ENST00000699684.1:c.*616G>C	ENSP00000514523.1:n.*616G>C
ENST00000699685.1:n.1227G>C
ENST00000699686.1:c.816G>C	ENSP00000514524.1:p.Lys272Asn
ENST00000699687.1:c.918G>C	ENSP00000514525.1:p.Lys306Asn
ENST00000699688.1:n.1223G>C
ENST00000699689.1:n.1579G>C
ENST00000699690.1:n.1776G>C
ENST00000699691.1:n.1920G>C
ENST00000699693.1:n.1440G>C
ENST00000699694.1:n.1682G>C
ENST00000699695.1:c.*395G>C	ENSP00000514526.1:n.*395G>C
ENST00000699696.1:n.1326G>C
ENST00000699697.1:c.1023G>C	ENSP00000514527.1:p.Lys341Asn
ENST00000699698.1:n.944G>C
ENST00000699699.1:n.1347G>C
ENST00000699700.1:n.1470G>C
ENST00000699701.1:c.*403G>C	ENSP00000514528.1:n.*403G>C
ENST00000267415.12:c.1023G>C MANE Select	ENSP00000267415.7:p.Lys341Asn
ENST00000646753.1:c.918G>C	ENSP00000494065.1:p.Lys306Asn
ENST00000267415.11:c.1023G>C	ENSP00000267415.7:p.Lys341Asn
ENST00000399423.8:c.1023G>C	ENSP00000382350.4:p.Lys341Asn
ENST00000557915.1:n.142G>C
ENST00000558566.1:c.*395G>C	ENSP00000453025.1:n.*395G>C
ENST00000559969.5:c.781G>C
ENST00000560019.5:c.18G>C	ENSP00000453113.1:p.Lys6Asn
ENST00000626689.2:c.*395G>C	ENSP00000486681.1:n.*395G>C
NM_001099274.1:c.1023G>C	NP_001092744.1:p.Lys341Asn
NM_012461.2:c.1023G>C	NP_036593.2:p.Lys341Asn
XM_005267528.2:c.1023G>C	XP_005267585.1:p.Lys341Asn
XM_005267529.2:c.918G>C	XP_005267586.1:p.Lys306Asn
NM_001099274.2:c.1023G>C	NP_001092744.1:p.Lys341Asn
NM_001363668.1:c.918G>C	NP_001350597.1:p.Lys306Asn
NM_012461.3:c.1023G>C	NP_036593.2:p.Lys341Asn
XM_011536642.2:c.*403G>C	XP_011534944.1:n.*403G>C
XM_017021216.2:c.381G>C	XP_016876705.1:p.Lys127Asn
XM_017021217.1:c.381G>C	XP_016876706.1:p.Lys127Asn
NM_001099274.3:c.1023G>C MANE Select	NP_001092744.1:p.Lys341Asn
NM_001363668.2:c.918G>C	NP_001350597.1:p.Lys306Asn