Canonical Allele Identifier: CA389222814

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240302-G-C
• MyVariant Identifiers: chr14:g.24709508G>C (hg19) ; chr14:g.24240302G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240302G>C , CM000676.2:g.24240302G>C	GRCh38
NC_000014.8:g.24709508G>C , CM000676.1:g.24709508G>C	GRCh37
NC_000014.7:g.23779348G>C	NCBI36
NG_016650.1:g.7373C>G
NG_054634.1:g.12886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1481C>G
ENST00000557921.3:c.*113C>G	ENSP00000453157.3:n.*113C>G
ENST00000699682.1:n.1568C>G
ENST00000699683.1:n.1618C>G
ENST00000699684.1:c.*771C>G	ENSP00000514523.1:n.*771C>G
ENST00000699685.1:n.1382C>G
ENST00000699686.1:c.*113C>G	ENSP00000514524.1:n.*113C>G
ENST00000699687.1:c.*113C>G	ENSP00000514525.1:n.*113C>G
ENST00000699688.1:n.1378C>G
ENST00000699689.1:n.1734C>G
ENST00000699690.1:n.1931C>G
ENST00000699691.1:n.2075C>G
ENST00000699692.1:n.29C>G
ENST00000699693.1:n.1507C>G
ENST00000699694.1:n.1837C>G
ENST00000699695.1:c.*462C>G	ENSP00000514526.1:n.*462C>G
ENST00000699696.1:n.1481C>G
ENST00000699697.1:c.1090C>G	ENSP00000514527.1:p.Leu364Val
ENST00000699698.1:n.1011C>G
ENST00000699699.1:n.1502C>G
ENST00000699700.1:n.1625C>G
ENST00000699701.1:c.*558C>G	ENSP00000514528.1:n.*558C>G
ENST00000267415.12:c.1090C>G MANE Select	ENSP00000267415.7:p.Leu364Val
ENST00000646753.1:c.985C>G	ENSP00000494065.1:p.Leu329Val
ENST00000267415.11:c.1090C>G	ENSP00000267415.7:p.Leu364Val
ENST00000399423.8:c.*113C>G	ENSP00000382350.4:n.*113C>G
ENST00000557915.1:n.297C>G
ENST00000558566.1:c.*550C>G	ENSP00000453025.1:n.*550C>G
ENST00000559969.5:c.936C>G
ENST00000560019.5:c.85C>G	ENSP00000453113.1:p.Leu29Val
ENST00000626689.2:c.*462C>G	ENSP00000486681.1:n.*462C>G
NM_001099274.1:c.1090C>G	NP_001092744.1:p.Leu364Val
NM_012461.2:c.*113C>G	NP_036593.2:n.*113C>G
XM_005267528.2:c.1090C>G	XP_005267585.1:p.Leu364Val
XM_005267529.2:c.985C>G	XP_005267586.1:p.Leu329Val
NM_001099274.2:c.1090C>G	NP_001092744.1:p.Leu364Val
NM_001363668.1:c.985C>G	NP_001350597.1:p.Leu329Val
NM_012461.3:c.*113C>G	NP_036593.2:n.*113C>G
XM_011536642.2:c.*558C>G	XP_011534944.1:n.*558C>G
XM_017021216.2:c.448C>G	XP_016876705.1:p.Leu150Val
XM_017021217.1:c.448C>G	XP_016876706.1:p.Leu150Val
NM_001099274.3:c.1090C>G MANE Select	NP_001092744.1:p.Leu364Val
NM_001363668.2:c.985C>G	NP_001350597.1:p.Leu329Val