Canonical Allele Identifier: CA389222697

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709494T>G (hg19) ; chr14:g.24240288T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240288T>G , CM000676.2:g.24240288T>G	GRCh38
NC_000014.8:g.24709494T>G , CM000676.1:g.24709494T>G	GRCh37
NC_000014.7:g.23779334T>G	NCBI36
NG_016650.1:g.7387A>C
NG_054634.1:g.12872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1495A>C
ENST00000557921.3:c.*127A>C	ENSP00000453157.3:n.*127A>C
ENST00000699682.1:n.1582A>C
ENST00000699683.1:n.1632A>C
ENST00000699684.1:c.*785A>C	ENSP00000514523.1:n.*785A>C
ENST00000699685.1:n.1396A>C
ENST00000699686.1:c.*127A>C	ENSP00000514524.1:n.*127A>C
ENST00000699687.1:c.*127A>C	ENSP00000514525.1:n.*127A>C
ENST00000699688.1:n.1392A>C
ENST00000699689.1:n.1748A>C
ENST00000699690.1:n.1945A>C
ENST00000699691.1:n.2089A>C
ENST00000699692.1:n.43A>C
ENST00000699693.1:n.1521A>C
ENST00000699694.1:n.1851A>C
ENST00000699695.1:c.*476A>C	ENSP00000514526.1:n.*476A>C
ENST00000699696.1:n.1495A>C
ENST00000699697.1:c.1104A>C	ENSP00000514527.1:p.Leu368Phe
ENST00000699698.1:n.1025A>C
ENST00000699699.1:n.1516A>C
ENST00000699700.1:n.1639A>C
ENST00000699701.1:c.*572A>C	ENSP00000514528.1:n.*572A>C
ENST00000267415.12:c.1104A>C MANE Select	ENSP00000267415.7:p.Leu368Phe
ENST00000646753.1:c.999A>C	ENSP00000494065.1:p.Leu333Phe
ENST00000267415.11:c.1104A>C	ENSP00000267415.7:p.Leu368Phe
ENST00000399423.8:c.*127A>C	ENSP00000382350.4:n.*127A>C
ENST00000557915.1:n.311A>C
ENST00000558566.1:c.*564A>C	ENSP00000453025.1:n.*564A>C
ENST00000559969.5:c.950A>C
ENST00000560019.5:c.99A>C	ENSP00000453113.1:p.Leu33Phe
ENST00000626689.2:c.*476A>C	ENSP00000486681.1:n.*476A>C
NM_001099274.1:c.1104A>C	NP_001092744.1:p.Leu368Phe
NM_012461.2:c.*127A>C	NP_036593.2:n.*127A>C
XM_005267528.2:c.1104A>C	XP_005267585.1:p.Leu368Phe
XM_005267529.2:c.999A>C	XP_005267586.1:p.Leu333Phe
NM_001099274.2:c.1104A>C	NP_001092744.1:p.Leu368Phe
NM_001363668.1:c.999A>C	NP_001350597.1:p.Leu333Phe
NM_012461.3:c.*127A>C	NP_036593.2:n.*127A>C
XM_011536642.2:c.*572A>C	XP_011534944.1:n.*572A>C
XM_017021216.2:c.462A>C	XP_016876705.1:p.Leu154Phe
XM_017021217.1:c.462A>C	XP_016876706.1:p.Leu154Phe
NM_001099274.3:c.1104A>C MANE Select	NP_001092744.1:p.Leu368Phe
NM_001363668.2:c.999A>C	NP_001350597.1:p.Leu333Phe