Canonical Allele Identifier: CA389225195

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1981214
• ClinVar RCV Id: RCV002751344
• dbSNP Id: rs1363732790
• gnomAD v2: 14-24709806-C-T
• gnomAD v3: 14-24240600-C-T
• gnomAD v4: 14-24240600-C-T
• MyVariant Identifiers: chr14:g.24709806C>T (hg19) ; chr14:g.24240600C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240600C>T , CM000676.2:g.24240600C>T	GRCh38
NC_000014.8:g.24709806C>T , CM000676.1:g.24709806C>T	GRCh37
NC_000014.7:g.23779646C>T	NCBI36
NG_016650.1:g.7075G>A
NG_054634.1:g.13184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1183G>A
ENST00000557921.3:c.772G>A	ENSP00000453157.3:p.Gly258Ser
ENST00000699682.1:n.1270G>A
ENST00000699683.1:n.1320G>A
ENST00000699684.1:c.*473G>A	ENSP00000514523.1:n.*473G>A
ENST00000699685.1:n.1084G>A
ENST00000699686.1:c.673G>A	ENSP00000514524.1:p.Gly225Ser
ENST00000699687.1:c.775G>A	ENSP00000514525.1:p.Gly259Ser
ENST00000699688.1:n.1080G>A
ENST00000699689.1:n.1436G>A
ENST00000699690.1:n.1633G>A
ENST00000699691.1:n.1777G>A
ENST00000699693.1:n.1297G>A
ENST00000699694.1:n.1539G>A
ENST00000699695.1:c.*252G>A	ENSP00000514526.1:n.*252G>A
ENST00000699696.1:n.1183G>A
ENST00000699697.1:c.880G>A	ENSP00000514527.1:p.Gly294Ser
ENST00000699698.1:n.801G>A
ENST00000699699.1:n.1204G>A
ENST00000699700.1:n.1327G>A
ENST00000699701.1:c.*260G>A	ENSP00000514528.1:n.*260G>A
ENST00000267415.12:c.880G>A MANE Select	ENSP00000267415.7:p.Gly294Ser
ENST00000557921.2:c.772G>A	ENSP00000453157.2:p.Gly258Ser
ENST00000646753.1:c.775G>A	ENSP00000494065.1:p.Gly259Ser
ENST00000267415.11:c.880G>A	ENSP00000267415.7:p.Gly294Ser
ENST00000399423.8:c.880G>A	ENSP00000382350.4:p.Gly294Ser
ENST00000558566.1:c.*252G>A	ENSP00000453025.1:n.*252G>A
ENST00000559019.1:c.*252G>A	ENSP00000453675.1:n.*252G>A
ENST00000559549.1:n.606G>A
ENST00000559969.5:c.757+79G>A
ENST00000626689.2:c.*252G>A	ENSP00000486681.1:n.*252G>A
NM_001099274.1:c.880G>A	NP_001092744.1:p.Gly294Ser
NM_012461.2:c.880G>A	NP_036593.2:p.Gly294Ser
XM_005267528.2:c.880G>A	XP_005267585.1:p.Gly294Ser
XM_005267529.2:c.775G>A	XP_005267586.1:p.Gly259Ser
NM_001099274.2:c.880G>A	NP_001092744.1:p.Gly294Ser
NM_001363668.1:c.775G>A	NP_001350597.1:p.Gly259Ser
NM_012461.3:c.880G>A	NP_036593.2:p.Gly294Ser
XM_011536642.2:c.*260G>A	XP_011534944.1:n.*260G>A
XM_017021216.2:c.238G>A	XP_016876705.1:p.Gly80Ser
XM_017021217.1:c.238G>A	XP_016876706.1:p.Gly80Ser
NM_001099274.3:c.880G>A MANE Select	NP_001092744.1:p.Gly294Ser
NM_001363668.2:c.775G>A	NP_001350597.1:p.Gly259Ser