Canonical Allele Identifier: CA389224464
Community Standard Title: NM_001099274.3(TINF2):c.936C>G (p.Tyr312Ter)
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24240544G>C , CM000676.2:g.24240544G>C GRCh38
NC_000014.8:g.24709750G>C , CM000676.1:g.24709750G>C GRCh37
NC_000014.7:g.23779590G>C NCBI36
NG_016650.1:g.7131C>G
NG_054634.1:g.13128G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001099274.3:c.936C>G MANE Select NP_001092744.1:p.Tyr312Ter
ENST00000267415.12:c.936C>G MANE Select ENSP00000267415.7:p.Tyr312Ter
NM_001099274.1:c.936C>G NP_001092744.1:p.Tyr312Ter
NM_001099274.2:c.936C>G NP_001092744.1:p.Tyr312Ter
NM_001363668.1:c.831C>G NP_001350597.1:p.Tyr277Ter
NM_001363668.2:c.831C>G NP_001350597.1:p.Tyr277Ter
NM_012461.2:c.936C>G NP_036593.2:p.Tyr312Ter
NM_012461.3:c.936C>G NP_036593.2:p.Tyr312Ter
ENST00000267415.11:c.936C>G ENSP00000267415.7:p.Tyr312Ter
ENST00000399423.8:c.936C>G ENSP00000382350.4:p.Tyr312Ter
ENST00000557915.1:n.55C>G
ENST00000557915.2:n.1239C>G
ENST00000557921.2:c.828C>G ENSP00000453157.2:p.Tyr276Ter
ENST00000557921.3:c.828C>G ENSP00000453157.3:p.Tyr276Ter
ENST00000558566.1:c.*308C>G ENSP00000453025.1:n.*308C>G
ENST00000559019.1:c.*308C>G ENSP00000453675.1:n.*308C>G
ENST00000559969.5:c.758-64C>G
ENST00000626689.2:c.*308C>G ENSP00000486681.1:n.*308C>G
ENST00000646753.1:c.831C>G ENSP00000494065.1:p.Tyr277Ter
ENST00000699682.1:n.1326C>G
ENST00000699683.1:n.1376C>G
ENST00000699684.1:c.*529C>G ENSP00000514523.1:n.*529C>G
ENST00000699685.1:n.1140C>G
ENST00000699686.1:c.729C>G ENSP00000514524.1:p.Tyr243Ter
ENST00000699687.1:c.831C>G ENSP00000514525.1:p.Tyr277Ter
ENST00000699688.1:n.1136C>G
ENST00000699689.1:n.1492C>G
ENST00000699690.1:n.1689C>G
ENST00000699691.1:n.1833C>G
ENST00000699693.1:n.1353C>G
ENST00000699694.1:n.1595C>G
ENST00000699695.1:c.*308C>G ENSP00000514526.1:n.*308C>G
ENST00000699696.1:n.1239C>G
ENST00000699697.1:c.936C>G ENSP00000514527.1:p.Tyr312Ter
ENST00000699698.1:n.857C>G
ENST00000699699.1:n.1260C>G
ENST00000699700.1:n.1383C>G
ENST00000699701.1:c.*316C>G ENSP00000514528.1:n.*316C>G
XM_005267528.2:c.936C>G XP_005267585.1:p.Tyr312Ter
XM_005267529.2:c.831C>G XP_005267586.1:p.Tyr277Ter
XM_011536642.2:c.*316C>G XP_011534944.1:n.*316C>G
XM_017021216.2:c.294C>G XP_016876705.1:p.Tyr98Ter
XM_017021217.1:c.294C>G XP_016876706.1:p.Tyr98Ter