Canonical Allele Identifier: CA389225052

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240586-C-G
• MyVariant Identifiers: chr14:g.24709792C>G (hg19) ; chr14:g.24240586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240586C>G , CM000676.2:g.24240586C>G	GRCh38
NC_000014.8:g.24709792C>G , CM000676.1:g.24709792C>G	GRCh37
NC_000014.7:g.23779632C>G	NCBI36
NG_016650.1:g.7089G>C
NG_054634.1:g.13170C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1197G>C
ENST00000557921.3:c.786G>C	ENSP00000453157.3:p.Gln262His
ENST00000699682.1:n.1284G>C
ENST00000699683.1:n.1334G>C
ENST00000699684.1:c.*487G>C	ENSP00000514523.1:n.*487G>C
ENST00000699685.1:n.1098G>C
ENST00000699686.1:c.687G>C	ENSP00000514524.1:p.Gln229His
ENST00000699687.1:c.789G>C	ENSP00000514525.1:p.Gln263His
ENST00000699688.1:n.1094G>C
ENST00000699689.1:n.1450G>C
ENST00000699690.1:n.1647G>C
ENST00000699691.1:n.1791G>C
ENST00000699693.1:n.1311G>C
ENST00000699694.1:n.1553G>C
ENST00000699695.1:c.*266G>C	ENSP00000514526.1:n.*266G>C
ENST00000699696.1:n.1197G>C
ENST00000699697.1:c.894G>C	ENSP00000514527.1:p.Gln298His
ENST00000699698.1:n.815G>C
ENST00000699699.1:n.1218G>C
ENST00000699700.1:n.1341G>C
ENST00000699701.1:c.*274G>C	ENSP00000514528.1:n.*274G>C
ENST00000267415.12:c.894G>C MANE Select	ENSP00000267415.7:p.Gln298His
ENST00000557921.2:c.786G>C	ENSP00000453157.2:p.Gln262His
ENST00000646753.1:c.789G>C	ENSP00000494065.1:p.Gln263His
ENST00000267415.11:c.894G>C	ENSP00000267415.7:p.Gln298His
ENST00000399423.8:c.894G>C	ENSP00000382350.4:p.Gln298His
ENST00000557915.1:n.13G>C
ENST00000558566.1:c.*266G>C	ENSP00000453025.1:n.*266G>C
ENST00000559019.1:c.*266G>C	ENSP00000453675.1:n.*266G>C
ENST00000559549.1:n.620G>C
ENST00000559969.5:c.757+93G>C
ENST00000626689.2:c.*266G>C	ENSP00000486681.1:n.*266G>C
NM_001099274.1:c.894G>C	NP_001092744.1:p.Gln298His
NM_012461.2:c.894G>C	NP_036593.2:p.Gln298His
XM_005267528.2:c.894G>C	XP_005267585.1:p.Gln298His
XM_005267529.2:c.789G>C	XP_005267586.1:p.Gln263His
NM_001099274.2:c.894G>C	NP_001092744.1:p.Gln298His
NM_001363668.1:c.789G>C	NP_001350597.1:p.Gln263His
NM_012461.3:c.894G>C	NP_036593.2:p.Gln298His
XM_011536642.2:c.*274G>C	XP_011534944.1:n.*274G>C
XM_017021216.2:c.252G>C	XP_016876705.1:p.Gln84His
XM_017021217.1:c.252G>C	XP_016876706.1:p.Gln84His
NM_001099274.3:c.894G>C MANE Select	NP_001092744.1:p.Gln298His
NM_001363668.2:c.789G>C	NP_001350597.1:p.Gln263His