Canonical Allele Identifier: CA389225876

Gene: TINF2

Linked Data

• dbSNP Id: rs1288705714
• gnomAD v2: 14-24709866-A-G
• gnomAD v4: 14-24240660-A-G
• MyVariant Identifiers: chr14:g.24709866A>G (hg19) ; chr14:g.24240660A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240660A>G , CM000676.2:g.24240660A>G	GRCh38
NC_000014.8:g.24709866A>G , CM000676.1:g.24709866A>G	GRCh37
NC_000014.7:g.23779706A>G	NCBI36
NG_016650.1:g.7015T>C
NG_054634.1:g.13244A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1123T>C
ENST00000557921.3:c.712T>C	ENSP00000453157.3:p.Ser238Pro
ENST00000699682.1:n.1210T>C
ENST00000699683.1:n.1260T>C
ENST00000699684.1:c.*413T>C	ENSP00000514523.1:n.*413T>C
ENST00000699685.1:n.1024T>C
ENST00000699686.1:c.613T>C	ENSP00000514524.1:p.Ser205Pro
ENST00000699687.1:c.715T>C	ENSP00000514525.1:p.Ser239Pro
ENST00000699688.1:n.1020T>C
ENST00000699689.1:n.1376T>C
ENST00000699690.1:n.1573T>C
ENST00000699691.1:n.1717T>C
ENST00000699693.1:n.1237T>C
ENST00000699694.1:n.1479T>C
ENST00000699695.1:c.*192T>C	ENSP00000514526.1:n.*192T>C
ENST00000699696.1:n.1123T>C
ENST00000699697.1:c.820T>C	ENSP00000514527.1:p.Ser274Pro
ENST00000699698.1:n.741T>C
ENST00000699699.1:n.1144T>C
ENST00000699700.1:n.1267T>C
ENST00000699701.1:c.*200T>C	ENSP00000514528.1:n.*200T>C
ENST00000267415.12:c.820T>C MANE Select	ENSP00000267415.7:p.Ser274Pro
ENST00000557921.2:c.712T>C	ENSP00000453157.2:p.Ser238Pro
ENST00000646753.1:c.715T>C	ENSP00000494065.1:p.Ser239Pro
ENST00000267415.11:c.820T>C	ENSP00000267415.7:p.Ser274Pro
ENST00000399423.8:c.820T>C	ENSP00000382350.4:p.Ser274Pro
ENST00000558476.5:c.382T>C	ENSP00000452724.1:p.Ser128Pro
ENST00000558566.1:c.*192T>C	ENSP00000453025.1:n.*192T>C
ENST00000559019.1:c.*192T>C	ENSP00000453675.1:n.*192T>C
ENST00000559549.1:n.546T>C
ENST00000559969.5:c.757+19T>C
ENST00000626689.2:c.*192T>C	ENSP00000486681.1:n.*192T>C
NM_001099274.1:c.820T>C	NP_001092744.1:p.Ser274Pro
NM_012461.2:c.820T>C	NP_036593.2:p.Ser274Pro
XM_005267528.2:c.820T>C	XP_005267585.1:p.Ser274Pro
XM_005267529.2:c.715T>C	XP_005267586.1:p.Ser239Pro
NM_001099274.2:c.820T>C	NP_001092744.1:p.Ser274Pro
NM_001363668.1:c.715T>C	NP_001350597.1:p.Ser239Pro
NM_012461.3:c.820T>C	NP_036593.2:p.Ser274Pro
XM_011536642.2:c.*200T>C	XP_011534944.1:n.*200T>C
XM_017021216.2:c.178T>C	XP_016876705.1:p.Ser60Pro
XM_017021217.1:c.178T>C	XP_016876706.1:p.Ser60Pro
NM_001099274.3:c.820T>C MANE Select	NP_001092744.1:p.Ser274Pro
NM_001363668.2:c.715T>C	NP_001350597.1:p.Ser239Pro