Canonical Allele Identifier: CA16616926

Gene: TINF2

Linked Data

• ClinVar Variation Id: 417880
• ClinVar RCV Id: RCV000477835 ; RCV000578829 ; RCV002525744
• dbSNP Id: rs1060499576
• gnomAD v4: 14-24242252-G-T
• MyVariant Identifiers: chr14:g.24711458G>T (hg19) ; chr14:g.24242252G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24242252G>T , CM000676.2:g.24242252G>T	GRCh38
NC_000014.8:g.24711458G>T , CM000676.1:g.24711458G>T	GRCh37
NC_000014.7:g.23781298G>T	NCBI36
NG_016650.1:g.5423C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.384C>A
ENST00000557921.3:c.81C>A	ENSP00000453157.3:p.Cys27Ter
ENST00000699682.1:n.384C>A
ENST00000699683.1:n.375C>A
ENST00000699684.1:c.81C>A	ENSP00000514523.1:p.Cys27Ter
ENST00000699685.1:n.344C>A
ENST00000699686.1:c.81C>A	ENSP00000514524.1:p.Cys27Ter
ENST00000699687.1:c.81C>A	ENSP00000514525.1:p.Cys27Ter
ENST00000699688.1:n.243C>A
ENST00000699689.1:n.378C>A
ENST00000699690.1:n.384C>A
ENST00000699691.1:n.384C>A
ENST00000699693.1:n.95C>A
ENST00000699694.1:n.337C>A
ENST00000699695.1:c.81C>A	ENSP00000514526.1:p.Cys27Ter
ENST00000699696.1:n.384C>A
ENST00000699697.1:c.81C>A	ENSP00000514527.1:p.Cys27Ter
ENST00000699698.1:n.107C>A
ENST00000699700.1:n.384C>A
ENST00000699701.1:c.81C>A	ENSP00000514528.1:p.Cys27Ter
ENST00000267415.12:c.81C>A MANE Select	ENSP00000267415.7:p.Cys27Ter
ENST00000557921.2:c.81C>A	ENSP00000453157.2:p.Cys27Ter
ENST00000646753.1:c.81C>A	ENSP00000494065.1:p.Cys27Ter
ENST00000267415.11:c.81C>A	ENSP00000267415.7:p.Cys27Ter
ENST00000399423.8:c.81C>A	ENSP00000382350.4:p.Cys27Ter
ENST00000557921.1:c.81C>A	ENSP00000453157.1:p.Cys27Ter
ENST00000558476.5:c.-247+125C>A	ENSP00000452724.1:n.-247+125C>A
ENST00000558510.1:n.384C>A
ENST00000558566.1:c.81C>A	ENSP00000453025.1:p.Cys27Ter
ENST00000559019.1:c.81C>A	ENSP00000453675.1:p.Cys27Ter
ENST00000559147.1:n.91C>A
ENST00000559969.5:c.37C>A
ENST00000626689.2:c.81C>A	ENSP00000486681.1:p.Cys27Ter
NM_001099274.1:c.81C>A	NP_001092744.1:p.Cys27Ter
NM_012461.2:c.81C>A	NP_036593.2:p.Cys27Ter
XM_005267528.2:c.81C>A	XP_005267585.1:p.Cys27Ter
XM_005267529.2:c.81C>A	XP_005267586.1:p.Cys27Ter
XM_011536642.1:c.81C>A	XP_011534944.1:p.Cys27Ter
NM_001099274.2:c.81C>A	NP_001092744.1:p.Cys27Ter
NM_001363668.1:c.81C>A	NP_001350597.1:p.Cys27Ter
NM_012461.3:c.81C>A	NP_036593.2:p.Cys27Ter
XM_011536642.2:c.81C>A	XP_011534944.1:p.Cys27Ter
XM_017021216.2:c.-150C>A	XP_016876705.1:n.-150C>A
NM_001099274.3:c.81C>A MANE Select	NP_001092744.1:p.Cys27Ter
NM_001363668.2:c.81C>A	NP_001350597.1:p.Cys27Ter