Canonical Allele Identifier: CA389226070

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709875G>T (hg19) ; chr14:g.24240669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240669G>T , CM000676.2:g.24240669G>T	GRCh38
NC_000014.8:g.24709875G>T , CM000676.1:g.24709875G>T	GRCh37
NC_000014.7:g.23779715G>T	NCBI36
NG_016650.1:g.7006C>A
NG_054634.1:g.13253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1114C>A
ENST00000557921.3:c.703C>A	ENSP00000453157.3:p.Gln235Lys
ENST00000699682.1:n.1201C>A
ENST00000699683.1:n.1251C>A
ENST00000699684.1:c.*404C>A	ENSP00000514523.1:n.*404C>A
ENST00000699685.1:n.1015C>A
ENST00000699686.1:c.604C>A	ENSP00000514524.1:p.Gln202Lys
ENST00000699687.1:c.706C>A	ENSP00000514525.1:p.Gln236Lys
ENST00000699688.1:n.1011C>A
ENST00000699689.1:n.1367C>A
ENST00000699690.1:n.1564C>A
ENST00000699691.1:n.1708C>A
ENST00000699693.1:n.1228C>A
ENST00000699694.1:n.1470C>A
ENST00000699695.1:c.*183C>A	ENSP00000514526.1:n.*183C>A
ENST00000699696.1:n.1114C>A
ENST00000699697.1:c.811C>A	ENSP00000514527.1:p.Gln271Lys
ENST00000699698.1:n.732C>A
ENST00000699699.1:n.1135C>A
ENST00000699700.1:n.1258C>A
ENST00000699701.1:c.*191C>A	ENSP00000514528.1:n.*191C>A
ENST00000267415.12:c.811C>A MANE Select	ENSP00000267415.7:p.Gln271Lys
ENST00000557921.2:c.703C>A	ENSP00000453157.2:p.Gln235Lys
ENST00000646753.1:c.706C>A	ENSP00000494065.1:p.Gln236Lys
ENST00000267415.11:c.811C>A	ENSP00000267415.7:p.Gln271Lys
ENST00000399423.8:c.811C>A	ENSP00000382350.4:p.Gln271Lys
ENST00000558476.5:c.373C>A	ENSP00000452724.1:p.Gln125Lys
ENST00000558566.1:c.*183C>A	ENSP00000453025.1:n.*183C>A
ENST00000559019.1:c.*183C>A	ENSP00000453675.1:n.*183C>A
ENST00000559549.1:n.537C>A
ENST00000559969.5:c.757+10C>A
ENST00000626689.2:c.*183C>A	ENSP00000486681.1:n.*183C>A
NM_001099274.1:c.811C>A	NP_001092744.1:p.Gln271Lys
NM_012461.2:c.811C>A	NP_036593.2:p.Gln271Lys
XM_005267528.2:c.811C>A	XP_005267585.1:p.Gln271Lys
XM_005267529.2:c.706C>A	XP_005267586.1:p.Gln236Lys
NM_001099274.2:c.811C>A	NP_001092744.1:p.Gln271Lys
NM_001363668.1:c.706C>A	NP_001350597.1:p.Gln236Lys
NM_012461.3:c.811C>A	NP_036593.2:p.Gln271Lys
XM_011536642.2:c.*191C>A	XP_011534944.1:n.*191C>A
XM_017021216.2:c.169C>A	XP_016876705.1:p.Gln57Lys
XM_017021217.1:c.169C>A	XP_016876706.1:p.Gln57Lys
NM_001099274.3:c.811C>A MANE Select	NP_001092744.1:p.Gln271Lys
NM_001363668.2:c.706C>A	NP_001350597.1:p.Gln236Lys