Canonical Allele Identifier: CA485782151
Gene: TINF2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2831590
ClinVar RCV Id: RCV003646432
MyVariant Identifiers: chr14:g.24709855T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240649T>C , CM000676.2:g.24240649T>C GRCh38
NC_000014.8:g.24709855T>C , CM000676.1:g.24709855T>C GRCh37
NC_000014.7:g.23779695T>C NCBI36
NG_016650.1:g.7026A>G
NG_054634.1:g.13233T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1134A>G
ENST00000557921.3:c.723A>G ENSP00000453157.3:p.Gly241=
ENST00000699682.1:n.1221A>G
ENST00000699683.1:n.1271A>G
ENST00000699684.1:c.*424A>G ENSP00000514523.1:n.*424A>G
ENST00000699685.1:n.1035A>G
ENST00000699686.1:c.624A>G ENSP00000514524.1:p.Gly208=
ENST00000699687.1:c.726A>G ENSP00000514525.1:p.Gly242=
ENST00000699688.1:n.1031A>G
ENST00000699689.1:n.1387A>G
ENST00000699690.1:n.1584A>G
ENST00000699691.1:n.1728A>G
ENST00000699693.1:n.1248A>G
ENST00000699694.1:n.1490A>G
ENST00000699695.1:c.*203A>G ENSP00000514526.1:n.*203A>G
ENST00000699696.1:n.1134A>G
ENST00000699697.1:c.831A>G ENSP00000514527.1:p.Gly277=
ENST00000699698.1:n.752A>G
ENST00000699699.1:n.1155A>G
ENST00000699700.1:n.1278A>G
ENST00000699701.1:c.*211A>G ENSP00000514528.1:n.*211A>G
ENST00000267415.12:c.831A>G MANE Select ENSP00000267415.7:p.Gly277=
ENST00000557921.2:c.723A>G ENSP00000453157.2:p.Gly241=
ENST00000646753.1:c.726A>G ENSP00000494065.1:p.Gly242=
ENST00000267415.11:c.831A>G ENSP00000267415.7:p.Gly277=
ENST00000399423.8:c.831A>G ENSP00000382350.4:p.Gly277=
ENST00000558476.5:c.393A>G ENSP00000452724.1:p.Gly131=
ENST00000558566.1:c.*203A>G ENSP00000453025.1:n.*203A>G
ENST00000559019.1:c.*203A>G ENSP00000453675.1:n.*203A>G
ENST00000559549.1:n.557A>G
ENST00000559969.5:c.757+30A>G
ENST00000626689.2:c.*203A>G ENSP00000486681.1:n.*203A>G
NM_001099274.1:c.831A>G NP_001092744.1:p.Gly277=
NM_012461.2:c.831A>G NP_036593.2:p.Gly277=
XM_005267528.2:c.831A>G XP_005267585.1:p.Gly277=
XM_005267529.2:c.726A>G XP_005267586.1:p.Gly242=
NM_001099274.2:c.831A>G NP_001092744.1:p.Gly277=
NM_001363668.1:c.726A>G NP_001350597.1:p.Gly242=
NM_012461.3:c.831A>G NP_036593.2:p.Gly277=
XM_011536642.2:c.*211A>G XP_011534944.1:n.*211A>G
XM_017021216.2:c.189A>G XP_016876705.1:p.Gly63=
XM_017021217.1:c.189A>G XP_016876706.1:p.Gly63=
NM_001099274.3:c.831A>G MANE Select NP_001092744.1:p.Gly277=
NM_001363668.2:c.726A>G NP_001350597.1:p.Gly242=