Canonical Allele Identifier: CA7130741
Community Standard Title: NM_001099274.3(TINF2):c.186G>A (p.Lys62=)
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24242147C>T , CM000676.2:g.24242147C>T GRCh38
NC_000014.8:g.24711353C>T , CM000676.1:g.24711353C>T GRCh37
NC_000014.7:g.23781193C>T NCBI36
NG_016650.1:g.5528G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001099274.3:c.186G>A MANE Select NP_001092744.1:p.Lys62=
ENST00000267415.12:c.186G>A MANE Select ENSP00000267415.7:p.Lys62=
NM_001099274.1:c.186G>A NP_001092744.1:p.Lys62=
NM_001099274.2:c.186G>A NP_001092744.1:p.Lys62=
NM_001363668.1:c.186G>A NP_001350597.1:p.Lys62=
NM_001363668.2:c.186G>A NP_001350597.1:p.Lys62=
NM_012461.2:c.186G>A NP_036593.2:p.Lys62=
NM_012461.3:c.186G>A NP_036593.2:p.Lys62=
ENST00000267415.11:c.186G>A ENSP00000267415.7:p.Lys62=
ENST00000399423.8:c.186G>A ENSP00000382350.4:p.Lys62=
ENST00000557915.2:n.489G>A
ENST00000557921.1:c.186G>A ENSP00000453157.1:p.Lys62=
ENST00000557921.2:c.186G>A ENSP00000453157.2:p.Lys62=
ENST00000557921.3:c.186G>A ENSP00000453157.3:p.Lys62=
ENST00000558476.5:c.-246-153G>A ENSP00000452724.1:n.-246-153G>A
ENST00000558510.1:n.489G>A
ENST00000558566.1:c.186G>A ENSP00000453025.1:p.Lys62=
ENST00000559019.1:c.186G>A ENSP00000453675.1:p.Lys62=
ENST00000559147.1:n.196G>A
ENST00000559969.5:c.142G>A
ENST00000626689.2:c.186G>A ENSP00000486681.1:p.Lys62=
ENST00000646753.1:c.186G>A ENSP00000494065.1:p.Lys62=
ENST00000699682.1:n.489G>A
ENST00000699683.1:n.480G>A
ENST00000699684.1:c.186G>A ENSP00000514523.1:p.Lys62=
ENST00000699685.1:n.449G>A
ENST00000699686.1:c.186G>A ENSP00000514524.1:p.Lys62=
ENST00000699687.1:c.186G>A ENSP00000514525.1:p.Lys62=
ENST00000699688.1:n.348G>A
ENST00000699689.1:n.483G>A
ENST00000699690.1:n.489G>A
ENST00000699691.1:n.489G>A
ENST00000699693.1:n.200G>A
ENST00000699694.1:n.442G>A
ENST00000699695.1:c.186G>A ENSP00000514526.1:p.Lys62=
ENST00000699696.1:n.489G>A
ENST00000699697.1:c.186G>A ENSP00000514527.1:p.Lys62=
ENST00000699698.1:n.212G>A
ENST00000699699.1:n.20G>A
ENST00000699700.1:n.489G>A
ENST00000699701.1:c.186G>A ENSP00000514528.1:p.Lys62=
XM_005267528.2:c.186G>A XP_005267585.1:p.Lys62=
XM_005267529.2:c.186G>A XP_005267586.1:p.Lys62=
XM_011536642.1:c.186G>A XP_011534944.1:p.Lys62=
XM_011536642.2:c.186G>A XP_011534944.1:p.Lys62=
XM_017021216.2:c.-45G>A XP_016876705.1:n.-45G>A