Canonical Allele Identifier: CA389227059

Gene: TINF2

Linked Data

• dbSNP Id: rs2138998837
• gnomAD v4: 14-24240768-T-C
• MyVariant Identifiers: chr14:g.24709974T>C (hg19) ; chr14:g.24240768T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240768T>C , CM000676.2:g.24240768T>C	GRCh38
NC_000014.8:g.24709974T>C , CM000676.1:g.24709974T>C	GRCh37
NC_000014.7:g.23779814T>C	NCBI36
NG_016650.1:g.6907A>G
NG_054634.1:g.13352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1015A>G
ENST00000557921.3:c.604A>G	ENSP00000453157.3:p.Thr202Ala
ENST00000699682.1:n.1102A>G
ENST00000699683.1:n.1152A>G
ENST00000699684.1:c.*305A>G	ENSP00000514523.1:n.*305A>G
ENST00000699685.1:n.916A>G
ENST00000699686.1:c.505A>G	ENSP00000514524.1:p.Thr169Ala
ENST00000699687.1:c.607A>G	ENSP00000514525.1:p.Thr203Ala
ENST00000699688.1:n.912A>G
ENST00000699689.1:n.1268A>G
ENST00000699690.1:n.1465A>G
ENST00000699691.1:n.1609A>G
ENST00000699693.1:n.1129A>G
ENST00000699694.1:n.1371A>G
ENST00000699695.1:c.*84A>G	ENSP00000514526.1:n.*84A>G
ENST00000699696.1:n.1015A>G
ENST00000699697.1:c.712A>G	ENSP00000514527.1:p.Thr238Ala
ENST00000699698.1:n.633A>G
ENST00000699699.1:n.1036A>G
ENST00000699700.1:n.1159A>G
ENST00000699701.1:c.*92A>G	ENSP00000514528.1:n.*92A>G
ENST00000267415.12:c.712A>G MANE Select	ENSP00000267415.7:p.Thr238Ala
ENST00000557921.2:c.604A>G	ENSP00000453157.2:p.Thr202Ala
ENST00000646753.1:c.607A>G	ENSP00000494065.1:p.Thr203Ala
ENST00000267415.11:c.712A>G	ENSP00000267415.7:p.Thr238Ala
ENST00000399423.8:c.712A>G	ENSP00000382350.4:p.Thr238Ala
ENST00000558476.5:c.274A>G	ENSP00000452724.1:p.Thr92Ala
ENST00000558566.1:c.*84A>G	ENSP00000453025.1:n.*84A>G
ENST00000559019.1:c.*84A>G	ENSP00000453675.1:n.*84A>G
ENST00000559549.1:n.438A>G
ENST00000559969.5:c.668A>G
ENST00000626689.2:c.*84A>G	ENSP00000486681.1:n.*84A>G
NM_001099274.1:c.712A>G	NP_001092744.1:p.Thr238Ala
NM_012461.2:c.712A>G	NP_036593.2:p.Thr238Ala
XM_005267528.2:c.712A>G	XP_005267585.1:p.Thr238Ala
XM_005267529.2:c.607A>G	XP_005267586.1:p.Thr203Ala
NM_001099274.2:c.712A>G	NP_001092744.1:p.Thr238Ala
NM_001363668.1:c.607A>G	NP_001350597.1:p.Thr203Ala
NM_012461.3:c.712A>G	NP_036593.2:p.Thr238Ala
XM_011536642.2:c.*92A>G	XP_011534944.1:n.*92A>G
XM_017021216.2:c.70A>G	XP_016876705.1:p.Thr24Ala
XM_017021217.1:c.70A>G	XP_016876706.1:p.Thr24Ala
NM_001099274.3:c.712A>G MANE Select	NP_001092744.1:p.Thr238Ala
NM_001363668.2:c.607A>G	NP_001350597.1:p.Thr203Ala