Canonical Allele Identifier: CA389223515

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240442-G-C
• MyVariant Identifiers: chr14:g.24709648G>C (hg19) ; chr14:g.24240442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240442G>C , CM000676.2:g.24240442G>C	GRCh38
NC_000014.8:g.24709648G>C , CM000676.1:g.24709648G>C	GRCh37
NC_000014.7:g.23779488G>C	NCBI36
NG_016650.1:g.7233C>G
NG_054634.1:g.13026G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1341C>G
ENST00000557921.3:c.930C>G	ENSP00000453157.3:p.Asp310Glu
ENST00000699682.1:n.1428C>G
ENST00000699683.1:n.1478C>G
ENST00000699684.1:c.*631C>G	ENSP00000514523.1:n.*631C>G
ENST00000699685.1:n.1242C>G
ENST00000699686.1:c.831C>G	ENSP00000514524.1:p.Asp277Glu
ENST00000699687.1:c.933C>G	ENSP00000514525.1:p.Asp311Glu
ENST00000699688.1:n.1238C>G
ENST00000699689.1:n.1594C>G
ENST00000699690.1:n.1791C>G
ENST00000699691.1:n.1935C>G
ENST00000699693.1:n.1455C>G
ENST00000699694.1:n.1697C>G
ENST00000699695.1:c.*410C>G	ENSP00000514526.1:n.*410C>G
ENST00000699696.1:n.1341C>G
ENST00000699697.1:c.1038C>G	ENSP00000514527.1:p.Asp346Glu
ENST00000699698.1:n.959C>G
ENST00000699699.1:n.1362C>G
ENST00000699700.1:n.1485C>G
ENST00000699701.1:c.*418C>G	ENSP00000514528.1:n.*418C>G
ENST00000267415.12:c.1038C>G MANE Select	ENSP00000267415.7:p.Asp346Glu
ENST00000646753.1:c.933C>G	ENSP00000494065.1:p.Asp311Glu
ENST00000267415.11:c.1038C>G	ENSP00000267415.7:p.Asp346Glu
ENST00000399423.8:c.1038C>G	ENSP00000382350.4:p.Asp346Glu
ENST00000557915.1:n.157C>G
ENST00000558566.1:c.*410C>G	ENSP00000453025.1:n.*410C>G
ENST00000559969.5:c.796C>G
ENST00000560019.5:c.33C>G	ENSP00000453113.1:p.Asp11Glu
ENST00000626689.2:c.*410C>G	ENSP00000486681.1:n.*410C>G
NM_001099274.1:c.1038C>G	NP_001092744.1:p.Asp346Glu
NM_012461.2:c.1038C>G	NP_036593.2:p.Asp346Glu
XM_005267528.2:c.1038C>G	XP_005267585.1:p.Asp346Glu
XM_005267529.2:c.933C>G	XP_005267586.1:p.Asp311Glu
NM_001099274.2:c.1038C>G	NP_001092744.1:p.Asp346Glu
NM_001363668.1:c.933C>G	NP_001350597.1:p.Asp311Glu
NM_012461.3:c.1038C>G	NP_036593.2:p.Asp346Glu
XM_011536642.2:c.*418C>G	XP_011534944.1:n.*418C>G
XM_017021216.2:c.396C>G	XP_016876705.1:p.Asp132Glu
XM_017021217.1:c.396C>G	XP_016876706.1:p.Asp132Glu
NM_001099274.3:c.1038C>G MANE Select	NP_001092744.1:p.Asp346Glu
NM_001363668.2:c.933C>G	NP_001350597.1:p.Asp311Glu