Canonical Allele Identifier: CA7130722
Community Standard Title: NM_001099274.3(TINF2):c.253C>G (p.His85Asp)
Gene: TINF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24241934G>C , CM000676.2:g.24241934G>C GRCh38
NC_000014.8:g.24711140G>C , CM000676.1:g.24711140G>C GRCh37
NC_000014.7:g.23780980G>C NCBI36
NG_016650.1:g.5741C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001099274.3:c.253C>G MANE Select NP_001092744.1:p.His85Asp
ENST00000267415.12:c.253C>G MANE Select ENSP00000267415.7:p.His85Asp
NM_001099274.1:c.253C>G NP_001092744.1:p.His85Asp
NM_001099274.2:c.253C>G NP_001092744.1:p.His85Asp
NM_001363668.1:c.193-158C>G NP_001350597.1:n.193-158C>G
NM_001363668.2:c.193-158C>G NP_001350597.1:n.193-158C>G
NM_012461.2:c.253C>G NP_036593.2:p.His85Asp
NM_012461.3:c.253C>G NP_036593.2:p.His85Asp
ENST00000267415.11:c.253C>G ENSP00000267415.7:p.His85Asp
ENST00000399423.8:c.253C>G ENSP00000382350.4:p.His85Asp
ENST00000557830.1:n.144C>G
ENST00000557915.2:n.556C>G
ENST00000557921.1:c.193-158C>G ENSP00000453157.1:n.193-158C>G
ENST00000557921.2:c.253C>G ENSP00000453157.2:p.His85Asp
ENST00000557921.3:c.253C>G ENSP00000453157.3:p.His85Asp
ENST00000558476.5:c.-186C>G ENSP00000452724.1:n.-186C>G
ENST00000558510.1:n.496-13C>G
ENST00000558566.1:c.253C>G ENSP00000453025.1:p.His85Asp
ENST00000559019.1:c.192+207C>G ENSP00000453675.1:n.192+207C>G
ENST00000559147.1:n.263C>G
ENST00000559969.5:c.209C>G
ENST00000626689.2:c.253C>G ENSP00000486681.1:p.His85Asp
ENST00000646753.1:c.193-158C>G ENSP00000494065.1:n.193-158C>G
ENST00000699682.1:n.556C>G
ENST00000699683.1:n.693C>G
ENST00000699684.1:c.263C>G ENSP00000514523.1:p.Ser88Ter
ENST00000699685.1:n.662C>G
ENST00000699686.1:c.192+207C>G ENSP00000514524.1:n.192+207C>G
ENST00000699687.1:c.193-158C>G ENSP00000514525.1:n.193-158C>G
ENST00000699688.1:n.561C>G
ENST00000699689.1:n.696C>G
ENST00000699690.1:n.556C>G
ENST00000699691.1:n.556C>G
ENST00000699693.1:n.413C>G
ENST00000699694.1:n.655C>G
ENST00000699695.1:c.193-158C>G ENSP00000514526.1:n.193-158C>G
ENST00000699696.1:n.556C>G
ENST00000699697.1:c.253C>G ENSP00000514527.1:p.His85Asp
ENST00000699698.1:n.219-158C>G
ENST00000699699.1:n.233C>G
ENST00000699700.1:n.556C>G
ENST00000699701.1:c.253C>G ENSP00000514528.1:p.His85Asp
XM_005267528.2:c.253C>G XP_005267585.1:p.His85Asp
XM_005267529.2:c.193-158C>G XP_005267586.1:n.193-158C>G
XM_011536642.1:c.253C>G XP_011534944.1:p.His85Asp
XM_011536642.2:c.253C>G XP_011534944.1:p.His85Asp
XM_017021216.2:c.-39+207C>G XP_016876705.1:n.-39+207C>G