Canonical Allele Identifier: CA7130568

Gene: TINF2

Linked Data

• dbSNP Id: rs138197619
• ExAC: 14:24709942 C / T
• gnomAD v2: 14-24709942-C-T
• gnomAD v3: 14-24240736-C-T
• gnomAD v4: 14-24240736-C-T
• COSMIC: COSM1369337 ; COSM1369338
• MyVariant Identifiers: chr14:g.24709942C>T (hg19) ; chr14:g.24240736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240736C>T , CM000676.2:g.24240736C>T	GRCh38
NC_000014.8:g.24709942C>T , CM000676.1:g.24709942C>T	GRCh37
NC_000014.7:g.23779782C>T	NCBI36
NG_016650.1:g.6939G>A
NG_054634.1:g.13320C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1047G>A
ENST00000557921.3:c.636G>A	ENSP00000453157.3:p.Thr212=
ENST00000699682.1:n.1134G>A
ENST00000699683.1:n.1184G>A
ENST00000699684.1:c.*337G>A	ENSP00000514523.1:n.*337G>A
ENST00000699685.1:n.948G>A
ENST00000699686.1:c.537G>A	ENSP00000514524.1:p.Thr179=
ENST00000699687.1:c.639G>A	ENSP00000514525.1:p.Thr213=
ENST00000699688.1:n.944G>A
ENST00000699689.1:n.1300G>A
ENST00000699690.1:n.1497G>A
ENST00000699691.1:n.1641G>A
ENST00000699693.1:n.1161G>A
ENST00000699694.1:n.1403G>A
ENST00000699695.1:c.*116G>A	ENSP00000514526.1:n.*116G>A
ENST00000699696.1:n.1047G>A
ENST00000699697.1:c.744G>A	ENSP00000514527.1:p.Thr248=
ENST00000699698.1:n.665G>A
ENST00000699699.1:n.1068G>A
ENST00000699700.1:n.1191G>A
ENST00000699701.1:c.*124G>A	ENSP00000514528.1:n.*124G>A
ENST00000267415.12:c.744G>A MANE Select	ENSP00000267415.7:p.Thr248=
ENST00000557921.2:c.636G>A	ENSP00000453157.2:p.Thr212=
ENST00000646753.1:c.639G>A	ENSP00000494065.1:p.Thr213=
ENST00000267415.11:c.744G>A	ENSP00000267415.7:p.Thr248=
ENST00000399423.8:c.744G>A	ENSP00000382350.4:p.Thr248=
ENST00000558476.5:c.306G>A	ENSP00000452724.1:p.Thr102=
ENST00000558566.1:c.*116G>A	ENSP00000453025.1:n.*116G>A
ENST00000559019.1:c.*116G>A	ENSP00000453675.1:n.*116G>A
ENST00000559549.1:n.470G>A
ENST00000559969.5:c.700G>A
ENST00000626689.2:c.*116G>A	ENSP00000486681.1:n.*116G>A
NM_001099274.1:c.744G>A	NP_001092744.1:p.Thr248=
NM_012461.2:c.744G>A	NP_036593.2:p.Thr248=
XM_005267528.2:c.744G>A	XP_005267585.1:p.Thr248=
XM_005267529.2:c.639G>A	XP_005267586.1:p.Thr213=
NM_001099274.2:c.744G>A	NP_001092744.1:p.Thr248=
NM_001363668.1:c.639G>A	NP_001350597.1:p.Thr213=
NM_012461.3:c.744G>A	NP_036593.2:p.Thr248=
XM_011536642.2:c.*124G>A	XP_011534944.1:n.*124G>A
XM_017021216.2:c.102G>A	XP_016876705.1:p.Thr34=
XM_017021217.1:c.102G>A	XP_016876706.1:p.Thr34=
NM_001099274.3:c.744G>A MANE Select	NP_001092744.1:p.Thr248=
NM_001363668.2:c.639G>A	NP_001350597.1:p.Thr213=