Canonical Allele Identifier: CA7130521

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1170761
• ClinVar RCV Id: RCV001523393 ; RCV003931146
• dbSNP Id: rs374320783
• ExAC: 14:24709627 C / T
• gnomAD v2: 14-24709627-C-T
• gnomAD v3: 14-24240421-C-T
• gnomAD v4: 14-24240421-C-T
• MyVariant Identifiers: chr14:g.24709627C>T (hg19) ; chr14:g.24240421C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240421C>T , CM000676.2:g.24240421C>T	GRCh38
NC_000014.8:g.24709627C>T , CM000676.1:g.24709627C>T	GRCh37
NC_000014.7:g.23779467C>T	NCBI36
NG_016650.1:g.7254G>A
NG_054634.1:g.13005C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1362G>A
ENST00000557921.3:c.951G>A	ENSP00000453157.3:p.Lys317=
ENST00000699682.1:n.1449G>A
ENST00000699683.1:n.1499G>A
ENST00000699684.1:c.*652G>A	ENSP00000514523.1:n.*652G>A
ENST00000699685.1:n.1263G>A
ENST00000699686.1:c.852G>A	ENSP00000514524.1:p.Lys284=
ENST00000699687.1:c.954G>A	ENSP00000514525.1:p.Lys318=
ENST00000699688.1:n.1259G>A
ENST00000699689.1:n.1615G>A
ENST00000699690.1:n.1812G>A
ENST00000699691.1:n.1956G>A
ENST00000699693.1:n.1476G>A
ENST00000699694.1:n.1718G>A
ENST00000699695.1:c.*431G>A	ENSP00000514526.1:n.*431G>A
ENST00000699696.1:n.1362G>A
ENST00000699697.1:c.1059G>A	ENSP00000514527.1:p.Lys353=
ENST00000699698.1:n.980G>A
ENST00000699699.1:n.1383G>A
ENST00000699700.1:n.1506G>A
ENST00000699701.1:c.*439G>A	ENSP00000514528.1:n.*439G>A
ENST00000267415.12:c.1059G>A MANE Select	ENSP00000267415.7:p.Lys353=
ENST00000646753.1:c.954G>A	ENSP00000494065.1:p.Lys318=
ENST00000267415.11:c.1059G>A	ENSP00000267415.7:p.Lys353=
ENST00000399423.8:c.1059G>A	ENSP00000382350.4:p.Lys353=
ENST00000557915.1:n.178G>A
ENST00000558566.1:c.*431G>A	ENSP00000453025.1:n.*431G>A
ENST00000559969.5:c.817G>A
ENST00000560019.5:c.54G>A	ENSP00000453113.1:p.Lys18=
ENST00000626689.2:c.*431G>A	ENSP00000486681.1:n.*431G>A
NM_001099274.1:c.1059G>A	NP_001092744.1:p.Lys353=
NM_012461.2:c.1059G>A	NP_036593.2:p.Lys353=
XM_005267528.2:c.1059G>A	XP_005267585.1:p.Lys353=
XM_005267529.2:c.954G>A	XP_005267586.1:p.Lys318=
NM_001099274.2:c.1059G>A	NP_001092744.1:p.Lys353=
NM_001363668.1:c.954G>A	NP_001350597.1:p.Lys318=
NM_012461.3:c.1059G>A	NP_036593.2:p.Lys353=
XM_011536642.2:c.*439G>A	XP_011534944.1:n.*439G>A
XM_017021216.2:c.417G>A	XP_016876705.1:p.Lys139=
XM_017021217.1:c.417G>A	XP_016876706.1:p.Lys139=
NM_001099274.3:c.1059G>A MANE Select	NP_001092744.1:p.Lys353=
NM_001363668.2:c.954G>A	NP_001350597.1:p.Lys318=