Canonical Allele Identifier: CA485782038
Gene: TINF2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24709756C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240550C>A , CM000676.2:g.24240550C>A GRCh38
NC_000014.8:g.24709756C>A , CM000676.1:g.24709756C>A GRCh37
NC_000014.7:g.23779596C>A NCBI36
NG_016650.1:g.7125G>T
NG_054634.1:g.13134C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000557915.2:n.1233G>T
ENST00000557921.3:c.822G>T ENSP00000453157.3:p.Ala274=
ENST00000699682.1:n.1320G>T
ENST00000699683.1:n.1370G>T
ENST00000699684.1:c.*523G>T ENSP00000514523.1:n.*523G>T
ENST00000699685.1:n.1134G>T
ENST00000699686.1:c.723G>T ENSP00000514524.1:p.Ala241=
ENST00000699687.1:c.825G>T ENSP00000514525.1:p.Ala275=
ENST00000699688.1:n.1130G>T
ENST00000699689.1:n.1486G>T
ENST00000699690.1:n.1683G>T
ENST00000699691.1:n.1827G>T
ENST00000699693.1:n.1347G>T
ENST00000699694.1:n.1589G>T
ENST00000699695.1:c.*302G>T ENSP00000514526.1:n.*302G>T
ENST00000699696.1:n.1233G>T
ENST00000699697.1:c.930G>T ENSP00000514527.1:p.Ala310=
ENST00000699698.1:n.851G>T
ENST00000699699.1:n.1254G>T
ENST00000699700.1:n.1377G>T
ENST00000699701.1:c.*310G>T ENSP00000514528.1:n.*310G>T
ENST00000267415.12:c.930G>T MANE Select ENSP00000267415.7:p.Ala310=
ENST00000557921.2:c.822G>T ENSP00000453157.2:p.Ala274=
ENST00000646753.1:c.825G>T ENSP00000494065.1:p.Ala275=
ENST00000267415.11:c.930G>T ENSP00000267415.7:p.Ala310=
ENST00000399423.8:c.930G>T ENSP00000382350.4:p.Ala310=
ENST00000557915.1:n.49G>T
ENST00000558566.1:c.*302G>T ENSP00000453025.1:n.*302G>T
ENST00000559019.1:c.*302G>T ENSP00000453675.1:n.*302G>T
ENST00000559969.5:c.758-70G>T
ENST00000626689.2:c.*302G>T ENSP00000486681.1:n.*302G>T
NM_001099274.1:c.930G>T NP_001092744.1:p.Ala310=
NM_012461.2:c.930G>T NP_036593.2:p.Ala310=
XM_005267528.2:c.930G>T XP_005267585.1:p.Ala310=
XM_005267529.2:c.825G>T XP_005267586.1:p.Ala275=
NM_001099274.2:c.930G>T NP_001092744.1:p.Ala310=
NM_001363668.1:c.825G>T NP_001350597.1:p.Ala275=
NM_012461.3:c.930G>T NP_036593.2:p.Ala310=
XM_011536642.2:c.*310G>T XP_011534944.1:n.*310G>T
XM_017021216.2:c.288G>T XP_016876705.1:p.Ala96=
XM_017021217.1:c.288G>T XP_016876706.1:p.Ala96=
NM_001099274.3:c.930G>T MANE Select NP_001092744.1:p.Ala310=
NM_001363668.2:c.825G>T NP_001350597.1:p.Ala275=