Canonical Allele Identifier: CA10645111

Gene: TINF2

Linked Data

• ClinVar Variation Id: 312960
• ClinVar RCV Id: RCV000305915 ; RCV000340400
• dbSNP Id: rs886050433
• gnomAD v4: 14-24242425-A-G
• MyVariant Identifiers: chr14:g.24711631A>G (hg19) ; chr14:g.24242425A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24242425A>G , CM000676.2:g.24242425A>G	GRCh38
NC_000014.8:g.24711631A>G , CM000676.1:g.24711631A>G	GRCh37
NC_000014.7:g.23781471A>G	NCBI36
NG_016650.1:g.5250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.211T>C
ENST00000699682.1:n.211T>C
ENST00000699683.1:n.202T>C
ENST00000699684.1:c.-93T>C	ENSP00000514523.1:n.-93T>C
ENST00000699685.1:n.171T>C
ENST00000699687.1:c.-93T>C	ENSP00000514525.1:n.-93T>C
ENST00000699688.1:n.70T>C
ENST00000699689.1:n.205T>C
ENST00000699690.1:n.211T>C
ENST00000699691.1:n.211T>C
ENST00000699694.1:n.164T>C
ENST00000699695.1:c.-93T>C	ENSP00000514526.1:n.-93T>C
ENST00000699696.1:n.211T>C
ENST00000699697.1:c.-93T>C	ENSP00000514527.1:n.-93T>C
ENST00000699700.1:n.211T>C
ENST00000699701.1:c.-93T>C	ENSP00000514528.1:n.-93T>C
ENST00000267415.12:c.-93T>C MANE Select	ENSP00000267415.7:n.-93T>C
ENST00000646753.1:c.-93T>C	ENSP00000494065.1:n.-93T>C
ENST00000267415.11:c.-93T>C	ENSP00000267415.7:n.-93T>C
ENST00000399423.8:c.-93T>C	ENSP00000382350.4:n.-93T>C
ENST00000557921.1:c.-93T>C	ENSP00000453157.1:n.-93T>C
ENST00000558476.5:c.-295T>C	ENSP00000452724.1:n.-295T>C
ENST00000558510.1:n.211T>C
ENST00000558566.1:c.-93T>C	ENSP00000453025.1:n.-93T>C
ENST00000559019.1:c.-93T>C	ENSP00000453675.1:n.-93T>C
ENST00000626689.2:c.-93T>C	ENSP00000486681.1:n.-93T>C
NM_001099274.1:c.-93T>C	NP_001092744.1:n.-93T>C
NM_012461.2:c.-93T>C	NP_036593.2:n.-93T>C
XM_005267528.2:c.-93T>C	XP_005267585.1:n.-93T>C
XM_005267529.2:c.-93T>C	XP_005267586.1:n.-93T>C
XM_011536642.1:c.-93T>C	XP_011534944.1:n.-93T>C
NM_001099274.2:c.-93T>C	NP_001092744.1:n.-93T>C
NM_001363668.1:c.-93T>C	NP_001350597.1:n.-93T>C
NM_012461.3:c.-93T>C	NP_036593.2:n.-93T>C
XM_011536642.2:c.-93T>C	XP_011534944.1:n.-93T>C
XM_017021216.2:c.-323T>C	XP_016876705.1:n.-323T>C
NM_001099274.3:c.-93T>C MANE Select	NP_001092744.1:n.-93T>C
NM_001363668.2:c.-93T>C	NP_001350597.1:n.-93T>C