Canonical Allele Identifier: CA389224283

Gene: TINF2

Linked Data

• dbSNP Id: rs945840362
• gnomAD v4: 14-24240527-A-C
• MyVariant Identifiers: chr14:g.24709733A>C (hg19) ; chr14:g.24240527A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240527A>C , CM000676.2:g.24240527A>C	GRCh38
NC_000014.8:g.24709733A>C , CM000676.1:g.24709733A>C	GRCh37
NC_000014.7:g.23779573A>C	NCBI36
NG_016650.1:g.7148T>G
NG_054634.1:g.13111A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1256T>G
ENST00000557921.3:c.845T>G	ENSP00000453157.3:p.Met282Arg
ENST00000699682.1:n.1343T>G
ENST00000699683.1:n.1393T>G
ENST00000699684.1:c.*546T>G	ENSP00000514523.1:n.*546T>G
ENST00000699685.1:n.1157T>G
ENST00000699686.1:c.746T>G	ENSP00000514524.1:p.Met249Arg
ENST00000699687.1:c.848T>G	ENSP00000514525.1:p.Met283Arg
ENST00000699688.1:n.1153T>G
ENST00000699689.1:n.1509T>G
ENST00000699690.1:n.1706T>G
ENST00000699691.1:n.1850T>G
ENST00000699693.1:n.1370T>G
ENST00000699694.1:n.1612T>G
ENST00000699695.1:c.*325T>G	ENSP00000514526.1:n.*325T>G
ENST00000699696.1:n.1256T>G
ENST00000699697.1:c.953T>G	ENSP00000514527.1:p.Met318Arg
ENST00000699698.1:n.874T>G
ENST00000699699.1:n.1277T>G
ENST00000699700.1:n.1400T>G
ENST00000699701.1:c.*333T>G	ENSP00000514528.1:n.*333T>G
ENST00000267415.12:c.953T>G MANE Select	ENSP00000267415.7:p.Met318Arg
ENST00000557921.2:c.845T>G	ENSP00000453157.2:p.Met282Arg
ENST00000646753.1:c.848T>G	ENSP00000494065.1:p.Met283Arg
ENST00000267415.11:c.953T>G	ENSP00000267415.7:p.Met318Arg
ENST00000399423.8:c.953T>G	ENSP00000382350.4:p.Met318Arg
ENST00000557915.1:n.72T>G
ENST00000558566.1:c.*325T>G	ENSP00000453025.1:n.*325T>G
ENST00000559019.1:c.*325T>G	ENSP00000453675.1:n.*325T>G
ENST00000559969.5:c.758-47T>G
ENST00000626689.2:c.*325T>G	ENSP00000486681.1:n.*325T>G
NM_001099274.1:c.953T>G	NP_001092744.1:p.Met318Arg
NM_012461.2:c.953T>G	NP_036593.2:p.Met318Arg
XM_005267528.2:c.953T>G	XP_005267585.1:p.Met318Arg
XM_005267529.2:c.848T>G	XP_005267586.1:p.Met283Arg
NM_001099274.2:c.953T>G	NP_001092744.1:p.Met318Arg
NM_001363668.1:c.848T>G	NP_001350597.1:p.Met283Arg
NM_012461.3:c.953T>G	NP_036593.2:p.Met318Arg
XM_011536642.2:c.*333T>G	XP_011534944.1:n.*333T>G
XM_017021216.2:c.311T>G	XP_016876705.1:p.Met104Arg
XM_017021217.1:c.311T>G	XP_016876706.1:p.Met104Arg
NM_001099274.3:c.953T>G MANE Select	NP_001092744.1:p.Met318Arg
NM_001363668.2:c.848T>G	NP_001350597.1:p.Met283Arg