Canonical Allele Identifier: CA389225102

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240591-T-G
• MyVariant Identifiers: chr14:g.24709797T>G (hg19) ; chr14:g.24240591T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240591T>G , CM000676.2:g.24240591T>G	GRCh38
NC_000014.8:g.24709797T>G , CM000676.1:g.24709797T>G	GRCh37
NC_000014.7:g.23779637T>G	NCBI36
NG_016650.1:g.7084A>C
NG_054634.1:g.13175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1192A>C
ENST00000557921.3:c.781A>C	ENSP00000453157.3:p.Thr261Pro
ENST00000699682.1:n.1279A>C
ENST00000699683.1:n.1329A>C
ENST00000699684.1:c.*482A>C	ENSP00000514523.1:n.*482A>C
ENST00000699685.1:n.1093A>C
ENST00000699686.1:c.682A>C	ENSP00000514524.1:p.Thr228Pro
ENST00000699687.1:c.784A>C	ENSP00000514525.1:p.Thr262Pro
ENST00000699688.1:n.1089A>C
ENST00000699689.1:n.1445A>C
ENST00000699690.1:n.1642A>C
ENST00000699691.1:n.1786A>C
ENST00000699693.1:n.1306A>C
ENST00000699694.1:n.1548A>C
ENST00000699695.1:c.*261A>C	ENSP00000514526.1:n.*261A>C
ENST00000699696.1:n.1192A>C
ENST00000699697.1:c.889A>C	ENSP00000514527.1:p.Thr297Pro
ENST00000699698.1:n.810A>C
ENST00000699699.1:n.1213A>C
ENST00000699700.1:n.1336A>C
ENST00000699701.1:c.*269A>C	ENSP00000514528.1:n.*269A>C
ENST00000267415.12:c.889A>C MANE Select	ENSP00000267415.7:p.Thr297Pro
ENST00000557921.2:c.781A>C	ENSP00000453157.2:p.Thr261Pro
ENST00000646753.1:c.784A>C	ENSP00000494065.1:p.Thr262Pro
ENST00000267415.11:c.889A>C	ENSP00000267415.7:p.Thr297Pro
ENST00000399423.8:c.889A>C	ENSP00000382350.4:p.Thr297Pro
ENST00000557915.1:n.8A>C
ENST00000558566.1:c.*261A>C	ENSP00000453025.1:n.*261A>C
ENST00000559019.1:c.*261A>C	ENSP00000453675.1:n.*261A>C
ENST00000559549.1:n.615A>C
ENST00000559969.5:c.757+88A>C
ENST00000626689.2:c.*261A>C	ENSP00000486681.1:n.*261A>C
NM_001099274.1:c.889A>C	NP_001092744.1:p.Thr297Pro
NM_012461.2:c.889A>C	NP_036593.2:p.Thr297Pro
XM_005267528.2:c.889A>C	XP_005267585.1:p.Thr297Pro
XM_005267529.2:c.784A>C	XP_005267586.1:p.Thr262Pro
NM_001099274.2:c.889A>C	NP_001092744.1:p.Thr297Pro
NM_001363668.1:c.784A>C	NP_001350597.1:p.Thr262Pro
NM_012461.3:c.889A>C	NP_036593.2:p.Thr297Pro
XM_011536642.2:c.*269A>C	XP_011534944.1:n.*269A>C
XM_017021216.2:c.247A>C	XP_016876705.1:p.Thr83Pro
XM_017021217.1:c.247A>C	XP_016876706.1:p.Thr83Pro
NM_001099274.3:c.889A>C MANE Select	NP_001092744.1:p.Thr297Pro
NM_001363668.2:c.784A>C	NP_001350597.1:p.Thr262Pro