Canonical Allele Identifier: CA7130555

Gene: TINF2

Linked Data

• dbSNP Id: rs766724006
• ExAC: 14:24709844 T / C
• gnomAD v2: 14-24709844-T-C
• gnomAD v4: 14-24240638-T-C
• MyVariant Identifiers: chr14:g.24709844T>C (hg19) ; chr14:g.24240638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240638T>C , CM000676.2:g.24240638T>C	GRCh38
NC_000014.8:g.24709844T>C , CM000676.1:g.24709844T>C	GRCh37
NC_000014.7:g.23779684T>C	NCBI36
NG_016650.1:g.7037A>G
NG_054634.1:g.13222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1145A>G
ENST00000557921.3:c.734A>G	ENSP00000453157.3:p.Glu245Gly
ENST00000699682.1:n.1232A>G
ENST00000699683.1:n.1282A>G
ENST00000699684.1:c.*435A>G	ENSP00000514523.1:n.*435A>G
ENST00000699685.1:n.1046A>G
ENST00000699686.1:c.635A>G	ENSP00000514524.1:p.Glu212Gly
ENST00000699687.1:c.737A>G	ENSP00000514525.1:p.Glu246Gly
ENST00000699688.1:n.1042A>G
ENST00000699689.1:n.1398A>G
ENST00000699690.1:n.1595A>G
ENST00000699691.1:n.1739A>G
ENST00000699693.1:n.1259A>G
ENST00000699694.1:n.1501A>G
ENST00000699695.1:c.*214A>G	ENSP00000514526.1:n.*214A>G
ENST00000699696.1:n.1145A>G
ENST00000699697.1:c.842A>G	ENSP00000514527.1:p.Glu281Gly
ENST00000699698.1:n.763A>G
ENST00000699699.1:n.1166A>G
ENST00000699700.1:n.1289A>G
ENST00000699701.1:c.*222A>G	ENSP00000514528.1:n.*222A>G
ENST00000267415.12:c.842A>G MANE Select	ENSP00000267415.7:p.Glu281Gly
ENST00000557921.2:c.734A>G	ENSP00000453157.2:p.Glu245Gly
ENST00000646753.1:c.737A>G	ENSP00000494065.1:p.Glu246Gly
ENST00000267415.11:c.842A>G	ENSP00000267415.7:p.Glu281Gly
ENST00000399423.8:c.842A>G	ENSP00000382350.4:p.Glu281Gly
ENST00000558476.5:c.404A>G	ENSP00000452724.1:p.Glu135Gly
ENST00000558566.1:c.*214A>G	ENSP00000453025.1:n.*214A>G
ENST00000559019.1:c.*214A>G	ENSP00000453675.1:n.*214A>G
ENST00000559549.1:n.568A>G
ENST00000559969.5:c.757+41A>G
ENST00000626689.2:c.*214A>G	ENSP00000486681.1:n.*214A>G
NM_001099274.1:c.842A>G	NP_001092744.1:p.Glu281Gly
NM_012461.2:c.842A>G	NP_036593.2:p.Glu281Gly
XM_005267528.2:c.842A>G	XP_005267585.1:p.Glu281Gly
XM_005267529.2:c.737A>G	XP_005267586.1:p.Glu246Gly
NM_001099274.2:c.842A>G	NP_001092744.1:p.Glu281Gly
NM_001363668.1:c.737A>G	NP_001350597.1:p.Glu246Gly
NM_012461.3:c.842A>G	NP_036593.2:p.Glu281Gly
XM_011536642.2:c.*222A>G	XP_011534944.1:n.*222A>G
XM_017021216.2:c.200A>G	XP_016876705.1:p.Glu67Gly
XM_017021217.1:c.200A>G	XP_016876706.1:p.Glu67Gly
NM_001099274.3:c.842A>G MANE Select	NP_001092744.1:p.Glu281Gly
NM_001363668.2:c.737A>G	NP_001350597.1:p.Glu246Gly