Canonical Allele Identifier: CA389229336

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24710004G>C (hg19) ; chr14:g.24240798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240798G>C , CM000676.2:g.24240798G>C	GRCh38
NC_000014.8:g.24710004G>C , CM000676.1:g.24710004G>C	GRCh37
NC_000014.7:g.23779844G>C	NCBI36
NG_016650.1:g.6877C>G
NG_054634.1:g.13382G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.985C>G
ENST00000557921.3:c.574C>G	ENSP00000453157.3:p.His192Asp
ENST00000699682.1:n.1072C>G
ENST00000699683.1:n.1122C>G
ENST00000699684.1:c.*275C>G	ENSP00000514523.1:n.*275C>G
ENST00000699685.1:n.886C>G
ENST00000699686.1:c.475C>G	ENSP00000514524.1:p.His159Asp
ENST00000699687.1:c.577C>G	ENSP00000514525.1:p.His193Asp
ENST00000699688.1:n.882C>G
ENST00000699689.1:n.1238C>G
ENST00000699690.1:n.1435C>G
ENST00000699691.1:n.1579C>G
ENST00000699693.1:n.1099C>G
ENST00000699694.1:n.1341C>G
ENST00000699695.1:c.*54C>G	ENSP00000514526.1:n.*54C>G
ENST00000699696.1:n.985C>G
ENST00000699697.1:c.682C>G	ENSP00000514527.1:p.His228Asp
ENST00000699698.1:n.603C>G
ENST00000699699.1:n.1006C>G
ENST00000699700.1:n.1129C>G
ENST00000699701.1:c.*62C>G	ENSP00000514528.1:n.*62C>G
ENST00000267415.12:c.682C>G MANE Select	ENSP00000267415.7:p.His228Asp
ENST00000557921.2:c.574C>G	ENSP00000453157.2:p.His192Asp
ENST00000646753.1:c.577C>G	ENSP00000494065.1:p.His193Asp
ENST00000267415.11:c.682C>G	ENSP00000267415.7:p.His228Asp
ENST00000399423.8:c.682C>G	ENSP00000382350.4:p.His228Asp
ENST00000558476.5:c.244C>G	ENSP00000452724.1:p.His82Asp
ENST00000558566.1:c.*54C>G	ENSP00000453025.1:n.*54C>G
ENST00000559019.1:c.*54C>G	ENSP00000453675.1:n.*54C>G
ENST00000559549.1:n.408C>G
ENST00000559969.5:c.638C>G
ENST00000626689.2:c.*54C>G	ENSP00000486681.1:n.*54C>G
NM_001099274.1:c.682C>G	NP_001092744.1:p.His228Asp
NM_012461.2:c.682C>G	NP_036593.2:p.His228Asp
XM_005267528.2:c.682C>G	XP_005267585.1:p.His228Asp
XM_005267529.2:c.577C>G	XP_005267586.1:p.His193Asp
XM_011536642.1:c.*62C>G	XP_011534944.1:n.*62C>G
NM_001099274.2:c.682C>G	NP_001092744.1:p.His228Asp
NM_001363668.1:c.577C>G	NP_001350597.1:p.His193Asp
NM_012461.3:c.682C>G	NP_036593.2:p.His228Asp
XM_011536642.2:c.*62C>G	XP_011534944.1:n.*62C>G
XM_017021216.2:c.40C>G	XP_016876705.1:p.His14Asp
XM_017021217.1:c.40C>G	XP_016876706.1:p.His14Asp
NM_001099274.3:c.682C>G MANE Select	NP_001092744.1:p.His228Asp
NM_001363668.2:c.577C>G	NP_001350597.1:p.His193Asp