Canonical Allele Identifier: CA389225968
Community Standard Title: NM_001099274.3(TINF2):c.815G>A (p.Trp272Ter)
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240665C>T , CM000676.2:g.24240665C>T GRCh38
NC_000014.8:g.24709871C>T , CM000676.1:g.24709871C>T GRCh37
NC_000014.7:g.23779711C>T NCBI36
NG_016650.1:g.7010G>A
NG_054634.1:g.13249C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001099274.3:c.815G>A MANE Select NP_001092744.1:p.Trp272Ter
ENST00000267415.12:c.815G>A MANE Select ENSP00000267415.7:p.Trp272Ter
NM_001099274.1:c.815G>A NP_001092744.1:p.Trp272Ter
NM_001099274.2:c.815G>A NP_001092744.1:p.Trp272Ter
NM_001363668.1:c.710G>A NP_001350597.1:p.Trp237Ter
NM_001363668.2:c.710G>A NP_001350597.1:p.Trp237Ter
NM_012461.2:c.815G>A NP_036593.2:p.Trp272Ter
NM_012461.3:c.815G>A NP_036593.2:p.Trp272Ter
ENST00000267415.11:c.815G>A ENSP00000267415.7:p.Trp272Ter
ENST00000399423.8:c.815G>A ENSP00000382350.4:p.Trp272Ter
ENST00000557915.2:n.1118G>A
ENST00000557921.2:c.707G>A ENSP00000453157.2:p.Trp236Ter
ENST00000557921.3:c.707G>A ENSP00000453157.3:p.Trp236Ter
ENST00000558476.5:c.377G>A ENSP00000452724.1:p.Trp126Ter
ENST00000558566.1:c.*187G>A ENSP00000453025.1:n.*187G>A
ENST00000559019.1:c.*187G>A ENSP00000453675.1:n.*187G>A
ENST00000559549.1:n.541G>A
ENST00000559969.5:c.757+14G>A
ENST00000626689.2:c.*187G>A ENSP00000486681.1:n.*187G>A
ENST00000646753.1:c.710G>A ENSP00000494065.1:p.Trp237Ter
ENST00000699682.1:n.1205G>A
ENST00000699683.1:n.1255G>A
ENST00000699684.1:c.*408G>A ENSP00000514523.1:n.*408G>A
ENST00000699685.1:n.1019G>A
ENST00000699686.1:c.608G>A ENSP00000514524.1:p.Trp203Ter
ENST00000699687.1:c.710G>A ENSP00000514525.1:p.Trp237Ter
ENST00000699688.1:n.1015G>A
ENST00000699689.1:n.1371G>A
ENST00000699690.1:n.1568G>A
ENST00000699691.1:n.1712G>A
ENST00000699693.1:n.1232G>A
ENST00000699694.1:n.1474G>A
ENST00000699695.1:c.*187G>A ENSP00000514526.1:n.*187G>A
ENST00000699696.1:n.1118G>A
ENST00000699697.1:c.815G>A ENSP00000514527.1:p.Trp272Ter
ENST00000699698.1:n.736G>A
ENST00000699699.1:n.1139G>A
ENST00000699700.1:n.1262G>A
ENST00000699701.1:c.*195G>A ENSP00000514528.1:n.*195G>A
XM_005267528.2:c.815G>A XP_005267585.1:p.Trp272Ter
XM_005267529.2:c.710G>A XP_005267586.1:p.Trp237Ter
XM_011536642.2:c.*195G>A XP_011534944.1:n.*195G>A
XM_017021216.2:c.173G>A XP_016876705.1:p.Trp58Ter
XM_017021217.1:c.173G>A XP_016876706.1:p.Trp58Ter