Canonical Allele Identifier: CA389223465

Gene: TINF2

Linked Data

• dbSNP Id: rs1555303965
• gnomAD v4: 14-24240435-C-G
• MyVariant Identifiers: chr14:g.24709641C>G (hg19) ; chr14:g.24240435C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240435C>G , CM000676.2:g.24240435C>G	GRCh38
NC_000014.8:g.24709641C>G , CM000676.1:g.24709641C>G	GRCh37
NC_000014.7:g.23779481C>G	NCBI36
NG_016650.1:g.7240G>C
NG_054634.1:g.13019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1348G>C
ENST00000557921.3:c.937G>C	ENSP00000453157.3:p.Ala313Pro
ENST00000699682.1:n.1435G>C
ENST00000699683.1:n.1485G>C
ENST00000699684.1:c.*638G>C	ENSP00000514523.1:n.*638G>C
ENST00000699685.1:n.1249G>C
ENST00000699686.1:c.838G>C	ENSP00000514524.1:p.Ala280Pro
ENST00000699687.1:c.940G>C	ENSP00000514525.1:p.Ala314Pro
ENST00000699688.1:n.1245G>C
ENST00000699689.1:n.1601G>C
ENST00000699690.1:n.1798G>C
ENST00000699691.1:n.1942G>C
ENST00000699693.1:n.1462G>C
ENST00000699694.1:n.1704G>C
ENST00000699695.1:c.*417G>C	ENSP00000514526.1:n.*417G>C
ENST00000699696.1:n.1348G>C
ENST00000699697.1:c.1045G>C	ENSP00000514527.1:p.Ala349Pro
ENST00000699698.1:n.966G>C
ENST00000699699.1:n.1369G>C
ENST00000699700.1:n.1492G>C
ENST00000699701.1:c.*425G>C	ENSP00000514528.1:n.*425G>C
ENST00000267415.12:c.1045G>C MANE Select	ENSP00000267415.7:p.Ala349Pro
ENST00000646753.1:c.940G>C	ENSP00000494065.1:p.Ala314Pro
ENST00000267415.11:c.1045G>C	ENSP00000267415.7:p.Ala349Pro
ENST00000399423.8:c.1045G>C	ENSP00000382350.4:p.Ala349Pro
ENST00000557915.1:n.164G>C
ENST00000558566.1:c.*417G>C	ENSP00000453025.1:n.*417G>C
ENST00000559969.5:c.803G>C
ENST00000560019.5:c.40G>C	ENSP00000453113.1:p.Ala14Pro
ENST00000626689.2:c.*417G>C	ENSP00000486681.1:n.*417G>C
NM_001099274.1:c.1045G>C	NP_001092744.1:p.Ala349Pro
NM_012461.2:c.1045G>C	NP_036593.2:p.Ala349Pro
XM_005267528.2:c.1045G>C	XP_005267585.1:p.Ala349Pro
XM_005267529.2:c.940G>C	XP_005267586.1:p.Ala314Pro
NM_001099274.2:c.1045G>C	NP_001092744.1:p.Ala349Pro
NM_001363668.1:c.940G>C	NP_001350597.1:p.Ala314Pro
NM_012461.3:c.1045G>C	NP_036593.2:p.Ala349Pro
XM_011536642.2:c.*425G>C	XP_011534944.1:n.*425G>C
XM_017021216.2:c.403G>C	XP_016876705.1:p.Ala135Pro
XM_017021217.1:c.403G>C	XP_016876706.1:p.Ala135Pro
NM_001099274.3:c.1045G>C MANE Select	NP_001092744.1:p.Ala349Pro
NM_001363668.2:c.940G>C	NP_001350597.1:p.Ala314Pro