Canonical Allele Identifier: CA389222462

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709473C>G (hg19) ; chr14:g.24240267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240267C>G , CM000676.2:g.24240267C>G	GRCh38
NC_000014.8:g.24709473C>G , CM000676.1:g.24709473C>G	GRCh37
NC_000014.7:g.23779313C>G	NCBI36
NG_016650.1:g.7408G>C
NG_054634.1:g.12851C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1516G>C
ENST00000557921.3:c.*148G>C	ENSP00000453157.3:n.*148G>C
ENST00000699682.1:n.1603G>C
ENST00000699683.1:n.1653G>C
ENST00000699684.1:c.*806G>C	ENSP00000514523.1:n.*806G>C
ENST00000699685.1:n.1417G>C
ENST00000699686.1:c.*148G>C	ENSP00000514524.1:n.*148G>C
ENST00000699687.1:c.*148G>C	ENSP00000514525.1:n.*148G>C
ENST00000699688.1:n.1413G>C
ENST00000699689.1:n.1769G>C
ENST00000699690.1:n.1966G>C
ENST00000699691.1:n.2110G>C
ENST00000699692.1:n.64G>C
ENST00000699693.1:n.1542G>C
ENST00000699694.1:n.1872G>C
ENST00000699695.1:c.*497G>C	ENSP00000514526.1:n.*497G>C
ENST00000699696.1:n.1516G>C
ENST00000699697.1:c.1125G>C	ENSP00000514527.1:p.Lys375Asn
ENST00000699698.1:n.1046G>C
ENST00000699699.1:n.1537G>C
ENST00000699700.1:n.1660G>C
ENST00000699701.1:c.*593G>C	ENSP00000514528.1:n.*593G>C
ENST00000267415.12:c.1125G>C MANE Select	ENSP00000267415.7:p.Lys375Asn
ENST00000646753.1:c.1020G>C	ENSP00000494065.1:p.Lys340Asn
ENST00000267415.11:c.1125G>C	ENSP00000267415.7:p.Lys375Asn
ENST00000399423.8:c.*148G>C	ENSP00000382350.4:n.*148G>C
ENST00000557915.1:n.332G>C
ENST00000558566.1:c.*585G>C	ENSP00000453025.1:n.*585G>C
ENST00000559969.5:c.971G>C
ENST00000560019.5:c.120G>C	ENSP00000453113.1:p.Lys40Asn
ENST00000626689.2:c.*497G>C	ENSP00000486681.1:n.*497G>C
NM_001099274.1:c.1125G>C	NP_001092744.1:p.Lys375Asn
NM_012461.2:c.*148G>C	NP_036593.2:n.*148G>C
XM_005267528.2:c.1125G>C	XP_005267585.1:p.Lys375Asn
XM_005267529.2:c.1020G>C	XP_005267586.1:p.Lys340Asn
NM_001099274.2:c.1125G>C	NP_001092744.1:p.Lys375Asn
NM_001363668.1:c.1020G>C	NP_001350597.1:p.Lys340Asn
NM_012461.3:c.*148G>C	NP_036593.2:n.*148G>C
XM_011536642.2:c.*593G>C	XP_011534944.1:n.*593G>C
XM_017021216.2:c.483G>C	XP_016876705.1:p.Lys161Asn
XM_017021217.1:c.483G>C	XP_016876706.1:p.Lys161Asn
NM_001099274.3:c.1125G>C MANE Select	NP_001092744.1:p.Lys375Asn
NM_001363668.2:c.1020G>C	NP_001350597.1:p.Lys340Asn