Canonical Allele Identifier: CA389227019

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1509342
• ClinVar RCV Id: RCV002040650
• dbSNP Id: rs2040558735
• gnomAD v3: 14-24240764-T-G
• gnomAD v4: 14-24240764-T-G
• MyVariant Identifiers: chr14:g.24709970T>G (hg19) ; chr14:g.24240764T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240764T>G , CM000676.2:g.24240764T>G	GRCh38
NC_000014.8:g.24709970T>G , CM000676.1:g.24709970T>G	GRCh37
NC_000014.7:g.23779810T>G	NCBI36
NG_016650.1:g.6911A>C
NG_054634.1:g.13348T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1019A>C
ENST00000557921.3:c.608A>C	ENSP00000453157.3:p.His203Pro
ENST00000699682.1:n.1106A>C
ENST00000699683.1:n.1156A>C
ENST00000699684.1:c.*309A>C	ENSP00000514523.1:n.*309A>C
ENST00000699685.1:n.920A>C
ENST00000699686.1:c.509A>C	ENSP00000514524.1:p.His170Pro
ENST00000699687.1:c.611A>C	ENSP00000514525.1:p.His204Pro
ENST00000699688.1:n.916A>C
ENST00000699689.1:n.1272A>C
ENST00000699690.1:n.1469A>C
ENST00000699691.1:n.1613A>C
ENST00000699693.1:n.1133A>C
ENST00000699694.1:n.1375A>C
ENST00000699695.1:c.*88A>C	ENSP00000514526.1:n.*88A>C
ENST00000699696.1:n.1019A>C
ENST00000699697.1:c.716A>C	ENSP00000514527.1:p.His239Pro
ENST00000699698.1:n.637A>C
ENST00000699699.1:n.1040A>C
ENST00000699700.1:n.1163A>C
ENST00000699701.1:c.*96A>C	ENSP00000514528.1:n.*96A>C
ENST00000267415.12:c.716A>C MANE Select	ENSP00000267415.7:p.His239Pro
ENST00000557921.2:c.608A>C	ENSP00000453157.2:p.His203Pro
ENST00000646753.1:c.611A>C	ENSP00000494065.1:p.His204Pro
ENST00000267415.11:c.716A>C	ENSP00000267415.7:p.His239Pro
ENST00000399423.8:c.716A>C	ENSP00000382350.4:p.His239Pro
ENST00000558476.5:c.278A>C	ENSP00000452724.1:p.His93Pro
ENST00000558566.1:c.*88A>C	ENSP00000453025.1:n.*88A>C
ENST00000559019.1:c.*88A>C	ENSP00000453675.1:n.*88A>C
ENST00000559549.1:n.442A>C
ENST00000559969.5:c.672A>C
ENST00000626689.2:c.*88A>C	ENSP00000486681.1:n.*88A>C
NM_001099274.1:c.716A>C	NP_001092744.1:p.His239Pro
NM_012461.2:c.716A>C	NP_036593.2:p.His239Pro
XM_005267528.2:c.716A>C	XP_005267585.1:p.His239Pro
XM_005267529.2:c.611A>C	XP_005267586.1:p.His204Pro
NM_001099274.2:c.716A>C	NP_001092744.1:p.His239Pro
NM_001363668.1:c.611A>C	NP_001350597.1:p.His204Pro
NM_012461.3:c.716A>C	NP_036593.2:p.His239Pro
XM_011536642.2:c.*96A>C	XP_011534944.1:n.*96A>C
XM_017021216.2:c.74A>C	XP_016876705.1:p.His25Pro
XM_017021217.1:c.74A>C	XP_016876706.1:p.His25Pro
NM_001099274.3:c.716A>C MANE Select	NP_001092744.1:p.His239Pro
NM_001363668.2:c.611A>C	NP_001350597.1:p.His204Pro