Canonical Allele Identifier: CA7130659

Gene: TINF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24241308G>A , CM000676.2:g.24241308G>A	GRCh38
NC_000014.8:g.24710514G>A , CM000676.1:g.24710514G>A	GRCh37
NC_000014.7:g.23780354G>A	NCBI36
NG_016650.1:g.6367C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001099274.3:c.403C>T MANE Select	NP_001092744.1:p.Leu135Phe
ENST00000267415.12:c.403C>T MANE Select	ENSP00000267415.7:p.Leu135Phe
NM_001099274.1:c.403C>T	NP_001092744.1:p.Leu135Phe
NM_001099274.2:c.403C>T	NP_001092744.1:p.Leu135Phe
NM_001363668.1:c.298C>T	NP_001350597.1:p.Leu100Phe
NM_001363668.2:c.298C>T	NP_001350597.1:p.Leu100Phe
NM_012461.2:c.403C>T	NP_036593.2:p.Leu135Phe
NM_012461.3:c.403C>T	NP_036593.2:p.Leu135Phe
ENST00000267415.11:c.403C>T	ENSP00000267415.7:p.Leu135Phe
ENST00000399423.8:c.403C>T	ENSP00000382350.4:p.Leu135Phe
ENST00000557915.2:n.706C>T
ENST00000557921.2:c.400-192C>T	ENSP00000453157.2:n.400-192C>T
ENST00000557921.3:c.400-192C>T	ENSP00000453157.3:n.400-192C>T
ENST00000558476.5:c.-36C>T	ENSP00000452724.1:n.-36C>T
ENST00000558566.1:c.399+367C>T	ENSP00000453025.1:n.399+367C>T
ENST00000559019.1:c.193-433C>T	ENSP00000453675.1:n.193-433C>T
ENST00000559147.1:n.413C>T
ENST00000559549.1:n.129C>T
ENST00000559969.5:c.359C>T
ENST00000626689.2:c.399+367C>T	ENSP00000486681.1:n.399+367C>T
ENST00000646753.1:c.298C>T	ENSP00000494065.1:p.Leu100Phe
ENST00000699682.1:n.706C>T
ENST00000699683.1:n.843C>T
ENST00000699684.1:c.413C>T	ENSP00000514523.1:p.Thr138Ile
ENST00000699685.1:n.808+367C>T
ENST00000699686.1:c.196C>T	ENSP00000514524.1:p.Leu66Phe
ENST00000699687.1:c.298C>T	ENSP00000514525.1:p.Leu100Phe
ENST00000699688.1:n.708-192C>T
ENST00000699689.1:n.959C>T
ENST00000699690.1:n.1069C>T
ENST00000699691.1:n.1069C>T
ENST00000699693.1:n.676C>T
ENST00000699694.1:n.918C>T
ENST00000699695.1:c.294+367C>T	ENSP00000514526.1:n.294+367C>T
ENST00000699696.1:n.706C>T
ENST00000699697.1:c.403C>T	ENSP00000514527.1:p.Leu135Phe
ENST00000699698.1:n.324C>T
ENST00000699699.1:n.496C>T
ENST00000699700.1:n.706C>T
ENST00000699701.1:c.403C>T	ENSP00000514528.1:p.Leu135Phe
XM_005267528.2:c.403C>T	XP_005267585.1:p.Leu135Phe
XM_005267529.2:c.298C>T	XP_005267586.1:p.Leu100Phe
XM_011536642.1:c.403C>T	XP_011534944.1:p.Leu135Phe
XM_011536642.2:c.403C>T	XP_011534944.1:p.Leu135Phe
XM_017021216.2:c.-38-433C>T	XP_016876705.1:n.-38-433C>T