Canonical Allele Identifier: CA389222834

Gene: TINF2

Linked Data

• dbSNP Id: rs1218392397
• gnomAD v3: 14-24240306-G-C
• gnomAD v4: 14-24240306-G-C
• MyVariant Identifiers: chr14:g.24709512G>C (hg19) ; chr14:g.24240306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240306G>C , CM000676.2:g.24240306G>C	GRCh38
NC_000014.8:g.24709512G>C , CM000676.1:g.24709512G>C	GRCh37
NC_000014.7:g.23779352G>C	NCBI36
NG_016650.1:g.7369C>G
NG_054634.1:g.12890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1477C>G
ENST00000557921.3:c.*109C>G	ENSP00000453157.3:n.*109C>G
ENST00000699682.1:n.1564C>G
ENST00000699683.1:n.1614C>G
ENST00000699684.1:c.*767C>G	ENSP00000514523.1:n.*767C>G
ENST00000699685.1:n.1378C>G
ENST00000699686.1:c.*109C>G	ENSP00000514524.1:n.*109C>G
ENST00000699687.1:c.*109C>G	ENSP00000514525.1:n.*109C>G
ENST00000699688.1:n.1374C>G
ENST00000699689.1:n.1730C>G
ENST00000699690.1:n.1927C>G
ENST00000699691.1:n.2071C>G
ENST00000699692.1:n.25C>G
ENST00000699693.1:n.1503C>G
ENST00000699694.1:n.1833C>G
ENST00000699695.1:c.*458C>G	ENSP00000514526.1:n.*458C>G
ENST00000699696.1:n.1477C>G
ENST00000699697.1:c.1086C>G	ENSP00000514527.1:p.Asp362Glu
ENST00000699698.1:n.1007C>G
ENST00000699699.1:n.1498C>G
ENST00000699700.1:n.1621C>G
ENST00000699701.1:c.*554C>G	ENSP00000514528.1:n.*554C>G
ENST00000267415.12:c.1086C>G MANE Select	ENSP00000267415.7:p.Asp362Glu
ENST00000646753.1:c.981C>G	ENSP00000494065.1:p.Asp327Glu
ENST00000267415.11:c.1086C>G	ENSP00000267415.7:p.Asp362Glu
ENST00000399423.8:c.*109C>G	ENSP00000382350.4:n.*109C>G
ENST00000557915.1:n.293C>G
ENST00000558566.1:c.*546C>G	ENSP00000453025.1:n.*546C>G
ENST00000559969.5:c.932C>G
ENST00000560019.5:c.81C>G	ENSP00000453113.1:p.Asp27Glu
ENST00000626689.2:c.*458C>G	ENSP00000486681.1:n.*458C>G
NM_001099274.1:c.1086C>G	NP_001092744.1:p.Asp362Glu
NM_012461.2:c.*109C>G	NP_036593.2:n.*109C>G
XM_005267528.2:c.1086C>G	XP_005267585.1:p.Asp362Glu
XM_005267529.2:c.981C>G	XP_005267586.1:p.Asp327Glu
NM_001099274.2:c.1086C>G	NP_001092744.1:p.Asp362Glu
NM_001363668.1:c.981C>G	NP_001350597.1:p.Asp327Glu
NM_012461.3:c.*109C>G	NP_036593.2:n.*109C>G
XM_011536642.2:c.*554C>G	XP_011534944.1:n.*554C>G
XM_017021216.2:c.444C>G	XP_016876705.1:p.Asp148Glu
XM_017021217.1:c.444C>G	XP_016876706.1:p.Asp148Glu
NM_001099274.3:c.1086C>G MANE Select	NP_001092744.1:p.Asp362Glu
NM_001363668.2:c.981C>G	NP_001350597.1:p.Asp327Glu