Canonical Allele Identifier: CA389223008

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240320-C-A
• MyVariant Identifiers: chr14:g.24709526C>A (hg19) ; chr14:g.24240320C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240320C>A , CM000676.2:g.24240320C>A	GRCh38
NC_000014.8:g.24709526C>A , CM000676.1:g.24709526C>A	GRCh37
NC_000014.7:g.23779366C>A	NCBI36
NG_016650.1:g.7355G>T
NG_054634.1:g.12904C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1463G>T
ENST00000557921.3:c.*95G>T	ENSP00000453157.3:n.*95G>T
ENST00000699682.1:n.1550G>T
ENST00000699683.1:n.1600G>T
ENST00000699684.1:c.*753G>T	ENSP00000514523.1:n.*753G>T
ENST00000699685.1:n.1364G>T
ENST00000699686.1:c.*95G>T	ENSP00000514524.1:n.*95G>T
ENST00000699687.1:c.*95G>T	ENSP00000514525.1:n.*95G>T
ENST00000699688.1:n.1360G>T
ENST00000699689.1:n.1716G>T
ENST00000699690.1:n.1913G>T
ENST00000699691.1:n.2057G>T
ENST00000699692.1:n.11G>T
ENST00000699693.1:n.1489G>T
ENST00000699694.1:n.1819G>T
ENST00000699695.1:c.*444G>T	ENSP00000514526.1:n.*444G>T
ENST00000699696.1:n.1463G>T
ENST00000699697.1:c.1072G>T	ENSP00000514527.1:p.Asp358Tyr
ENST00000699698.1:n.993G>T
ENST00000699699.1:n.1484G>T
ENST00000699700.1:n.1607G>T
ENST00000699701.1:c.*540G>T	ENSP00000514528.1:n.*540G>T
ENST00000267415.12:c.1072G>T MANE Select	ENSP00000267415.7:p.Asp358Tyr
ENST00000646753.1:c.967G>T	ENSP00000494065.1:p.Asp323Tyr
ENST00000267415.11:c.1072G>T	ENSP00000267415.7:p.Asp358Tyr
ENST00000399423.8:c.*95G>T	ENSP00000382350.4:n.*95G>T
ENST00000557915.1:n.279G>T
ENST00000558566.1:c.*532G>T	ENSP00000453025.1:n.*532G>T
ENST00000559969.5:c.918G>T
ENST00000560019.5:c.67G>T	ENSP00000453113.1:p.Asp23Tyr
ENST00000626689.2:c.*444G>T	ENSP00000486681.1:n.*444G>T
NM_001099274.1:c.1072G>T	NP_001092744.1:p.Asp358Tyr
NM_012461.2:c.*95G>T	NP_036593.2:n.*95G>T
XM_005267528.2:c.1072G>T	XP_005267585.1:p.Asp358Tyr
XM_005267529.2:c.967G>T	XP_005267586.1:p.Asp323Tyr
NM_001099274.2:c.1072G>T	NP_001092744.1:p.Asp358Tyr
NM_001363668.1:c.967G>T	NP_001350597.1:p.Asp323Tyr
NM_012461.3:c.*95G>T	NP_036593.2:n.*95G>T
XM_011536642.2:c.*540G>T	XP_011534944.1:n.*540G>T
XM_017021216.2:c.430G>T	XP_016876705.1:p.Asp144Tyr
XM_017021217.1:c.430G>T	XP_016876706.1:p.Asp144Tyr
NM_001099274.3:c.1072G>T MANE Select	NP_001092744.1:p.Asp358Tyr
NM_001363668.2:c.967G>T	NP_001350597.1:p.Asp323Tyr