Canonical Allele Identifier: CA389226044

Gene: TINF2

Linked Data

• dbSNP Id: rs1305842288
• gnomAD v2: 14-24709874-T-C
• gnomAD v4: 14-24240668-T-C
• MyVariant Identifiers: chr14:g.24709874T>C (hg19) ; chr14:g.24240668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240668T>C , CM000676.2:g.24240668T>C	GRCh38
NC_000014.8:g.24709874T>C , CM000676.1:g.24709874T>C	GRCh37
NC_000014.7:g.23779714T>C	NCBI36
NG_016650.1:g.7007A>G
NG_054634.1:g.13252T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1115A>G
ENST00000557921.3:c.704A>G	ENSP00000453157.3:p.Gln235Arg
ENST00000699682.1:n.1202A>G
ENST00000699683.1:n.1252A>G
ENST00000699684.1:c.*405A>G	ENSP00000514523.1:n.*405A>G
ENST00000699685.1:n.1016A>G
ENST00000699686.1:c.605A>G	ENSP00000514524.1:p.Gln202Arg
ENST00000699687.1:c.707A>G	ENSP00000514525.1:p.Gln236Arg
ENST00000699688.1:n.1012A>G
ENST00000699689.1:n.1368A>G
ENST00000699690.1:n.1565A>G
ENST00000699691.1:n.1709A>G
ENST00000699693.1:n.1229A>G
ENST00000699694.1:n.1471A>G
ENST00000699695.1:c.*184A>G	ENSP00000514526.1:n.*184A>G
ENST00000699696.1:n.1115A>G
ENST00000699697.1:c.812A>G	ENSP00000514527.1:p.Gln271Arg
ENST00000699698.1:n.733A>G
ENST00000699699.1:n.1136A>G
ENST00000699700.1:n.1259A>G
ENST00000699701.1:c.*192A>G	ENSP00000514528.1:n.*192A>G
ENST00000267415.12:c.812A>G MANE Select	ENSP00000267415.7:p.Gln271Arg
ENST00000557921.2:c.704A>G	ENSP00000453157.2:p.Gln235Arg
ENST00000646753.1:c.707A>G	ENSP00000494065.1:p.Gln236Arg
ENST00000267415.11:c.812A>G	ENSP00000267415.7:p.Gln271Arg
ENST00000399423.8:c.812A>G	ENSP00000382350.4:p.Gln271Arg
ENST00000558476.5:c.374A>G	ENSP00000452724.1:p.Gln125Arg
ENST00000558566.1:c.*184A>G	ENSP00000453025.1:n.*184A>G
ENST00000559019.1:c.*184A>G	ENSP00000453675.1:n.*184A>G
ENST00000559549.1:n.538A>G
ENST00000559969.5:c.757+11A>G
ENST00000626689.2:c.*184A>G	ENSP00000486681.1:n.*184A>G
NM_001099274.1:c.812A>G	NP_001092744.1:p.Gln271Arg
NM_012461.2:c.812A>G	NP_036593.2:p.Gln271Arg
XM_005267528.2:c.812A>G	XP_005267585.1:p.Gln271Arg
XM_005267529.2:c.707A>G	XP_005267586.1:p.Gln236Arg
NM_001099274.2:c.812A>G	NP_001092744.1:p.Gln271Arg
NM_001363668.1:c.707A>G	NP_001350597.1:p.Gln236Arg
NM_012461.3:c.812A>G	NP_036593.2:p.Gln271Arg
XM_011536642.2:c.*192A>G	XP_011534944.1:n.*192A>G
XM_017021216.2:c.170A>G	XP_016876705.1:p.Gln57Arg
XM_017021217.1:c.170A>G	XP_016876706.1:p.Gln57Arg
NM_001099274.3:c.812A>G MANE Select	NP_001092744.1:p.Gln271Arg
NM_001363668.2:c.707A>G	NP_001350597.1:p.Gln236Arg