Canonical Allele Identifier: CA389226409

Gene: TINF2

Linked Data

• ClinVar Variation Id: 655114
• ClinVar RCV Id: RCV000811226
• dbSNP Id: rs1594551733
• MyVariant Identifiers: chr14:g.24709908G>C (hg19) ; chr14:g.24240702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240702G>C , CM000676.2:g.24240702G>C	GRCh38
NC_000014.8:g.24709908G>C , CM000676.1:g.24709908G>C	GRCh37
NC_000014.7:g.23779748G>C	NCBI36
NG_016650.1:g.6973C>G
NG_054634.1:g.13286G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1081C>G
ENST00000557921.3:c.670C>G	ENSP00000453157.3:p.Leu224Val
ENST00000699682.1:n.1168C>G
ENST00000699683.1:n.1218C>G
ENST00000699684.1:c.*371C>G	ENSP00000514523.1:n.*371C>G
ENST00000699685.1:n.982C>G
ENST00000699686.1:c.571C>G	ENSP00000514524.1:p.Leu191Val
ENST00000699687.1:c.673C>G	ENSP00000514525.1:p.Leu225Val
ENST00000699688.1:n.978C>G
ENST00000699689.1:n.1334C>G
ENST00000699690.1:n.1531C>G
ENST00000699691.1:n.1675C>G
ENST00000699693.1:n.1195C>G
ENST00000699694.1:n.1437C>G
ENST00000699695.1:c.*150C>G	ENSP00000514526.1:n.*150C>G
ENST00000699696.1:n.1081C>G
ENST00000699697.1:c.778C>G	ENSP00000514527.1:p.Leu260Val
ENST00000699698.1:n.699C>G
ENST00000699699.1:n.1102C>G
ENST00000699700.1:n.1225C>G
ENST00000699701.1:c.*158C>G	ENSP00000514528.1:n.*158C>G
ENST00000267415.12:c.778C>G MANE Select	ENSP00000267415.7:p.Leu260Val
ENST00000557921.2:c.670C>G	ENSP00000453157.2:p.Leu224Val
ENST00000646753.1:c.673C>G	ENSP00000494065.1:p.Leu225Val
ENST00000267415.11:c.778C>G	ENSP00000267415.7:p.Leu260Val
ENST00000399423.8:c.778C>G	ENSP00000382350.4:p.Leu260Val
ENST00000558476.5:c.340C>G	ENSP00000452724.1:p.Leu114Val
ENST00000558566.1:c.*150C>G	ENSP00000453025.1:n.*150C>G
ENST00000559019.1:c.*150C>G	ENSP00000453675.1:n.*150C>G
ENST00000559549.1:n.504C>G
ENST00000559969.5:c.734C>G
ENST00000626689.2:c.*150C>G	ENSP00000486681.1:n.*150C>G
NM_001099274.1:c.778C>G	NP_001092744.1:p.Leu260Val
NM_012461.2:c.778C>G	NP_036593.2:p.Leu260Val
XM_005267528.2:c.778C>G	XP_005267585.1:p.Leu260Val
XM_005267529.2:c.673C>G	XP_005267586.1:p.Leu225Val
NM_001099274.2:c.778C>G	NP_001092744.1:p.Leu260Val
NM_001363668.1:c.673C>G	NP_001350597.1:p.Leu225Val
NM_012461.3:c.778C>G	NP_036593.2:p.Leu260Val
XM_011536642.2:c.*158C>G	XP_011534944.1:n.*158C>G
XM_017021216.2:c.136C>G	XP_016876705.1:p.Leu46Val
XM_017021217.1:c.136C>G	XP_016876706.1:p.Leu46Val
NM_001099274.3:c.778C>G MANE Select	NP_001092744.1:p.Leu260Val
NM_001363668.2:c.673C>G	NP_001350597.1:p.Leu225Val