Canonical Allele Identifier: CA7130537

Gene: TINF2

Linked Data

• dbSNP Id: rs750745512
• ExAC: 14:24709691 C / G
• gnomAD v2: 14-24709691-C-G
• gnomAD v4: 14-24240485-C-G
• MyVariant Identifiers: chr14:g.24709691C>G (hg19) ; chr14:g.24240485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240485C>G , CM000676.2:g.24240485C>G	GRCh38
NC_000014.8:g.24709691C>G , CM000676.1:g.24709691C>G	GRCh37
NC_000014.7:g.23779531C>G	NCBI36
NG_016650.1:g.7190G>C
NG_054634.1:g.13069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1298G>C
ENST00000557921.3:c.887G>C	ENSP00000453157.3:p.Cys296Ser
ENST00000699682.1:n.1385G>C
ENST00000699683.1:n.1435G>C
ENST00000699684.1:c.*588G>C	ENSP00000514523.1:n.*588G>C
ENST00000699685.1:n.1199G>C
ENST00000699686.1:c.788G>C	ENSP00000514524.1:p.Cys263Ser
ENST00000699687.1:c.890G>C	ENSP00000514525.1:p.Cys297Ser
ENST00000699688.1:n.1195G>C
ENST00000699689.1:n.1551G>C
ENST00000699690.1:n.1748G>C
ENST00000699691.1:n.1892G>C
ENST00000699693.1:n.1412G>C
ENST00000699694.1:n.1654G>C
ENST00000699695.1:c.*367G>C	ENSP00000514526.1:n.*367G>C
ENST00000699696.1:n.1298G>C
ENST00000699697.1:c.995G>C	ENSP00000514527.1:p.Cys332Ser
ENST00000699698.1:n.916G>C
ENST00000699699.1:n.1319G>C
ENST00000699700.1:n.1442G>C
ENST00000699701.1:c.*375G>C	ENSP00000514528.1:n.*375G>C
ENST00000267415.12:c.995G>C MANE Select	ENSP00000267415.7:p.Cys332Ser
ENST00000646753.1:c.890G>C	ENSP00000494065.1:p.Cys297Ser
ENST00000267415.11:c.995G>C	ENSP00000267415.7:p.Cys332Ser
ENST00000399423.8:c.995G>C	ENSP00000382350.4:p.Cys332Ser
ENST00000557915.1:n.114G>C
ENST00000558566.1:c.*367G>C	ENSP00000453025.1:n.*367G>C
ENST00000559019.1:c.*367G>C	ENSP00000453675.1:n.*367G>C
ENST00000559969.5:c.758-5G>C
ENST00000626689.2:c.*367G>C	ENSP00000486681.1:n.*367G>C
NM_001099274.1:c.995G>C	NP_001092744.1:p.Cys332Ser
NM_012461.2:c.995G>C	NP_036593.2:p.Cys332Ser
XM_005267528.2:c.995G>C	XP_005267585.1:p.Cys332Ser
XM_005267529.2:c.890G>C	XP_005267586.1:p.Cys297Ser
NM_001099274.2:c.995G>C	NP_001092744.1:p.Cys332Ser
NM_001363668.1:c.890G>C	NP_001350597.1:p.Cys297Ser
NM_012461.3:c.995G>C	NP_036593.2:p.Cys332Ser
XM_011536642.2:c.*375G>C	XP_011534944.1:n.*375G>C
XM_017021216.2:c.353G>C	XP_016876705.1:p.Cys118Ser
XM_017021217.1:c.353G>C	XP_016876706.1:p.Cys118Ser
NM_001099274.3:c.995G>C MANE Select	NP_001092744.1:p.Cys332Ser
NM_001363668.2:c.890G>C	NP_001350597.1:p.Cys297Ser