Canonical Allele Identifier: CA389222748

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709501A>C (hg19) ; chr14:g.24240295A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240295A>C , CM000676.2:g.24240295A>C	GRCh38
NC_000014.8:g.24709501A>C , CM000676.1:g.24709501A>C	GRCh37
NC_000014.7:g.23779341A>C	NCBI36
NG_016650.1:g.7380T>G
NG_054634.1:g.12879A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1488T>G
ENST00000557921.3:c.*120T>G	ENSP00000453157.3:n.*120T>G
ENST00000699682.1:n.1575T>G
ENST00000699683.1:n.1625T>G
ENST00000699684.1:c.*778T>G	ENSP00000514523.1:n.*778T>G
ENST00000699685.1:n.1389T>G
ENST00000699686.1:c.*120T>G	ENSP00000514524.1:n.*120T>G
ENST00000699687.1:c.*120T>G	ENSP00000514525.1:n.*120T>G
ENST00000699688.1:n.1385T>G
ENST00000699689.1:n.1741T>G
ENST00000699690.1:n.1938T>G
ENST00000699691.1:n.2082T>G
ENST00000699692.1:n.36T>G
ENST00000699693.1:n.1514T>G
ENST00000699694.1:n.1844T>G
ENST00000699695.1:c.*469T>G	ENSP00000514526.1:n.*469T>G
ENST00000699696.1:n.1488T>G
ENST00000699697.1:c.1097T>G	ENSP00000514527.1:p.Leu366Arg
ENST00000699698.1:n.1018T>G
ENST00000699699.1:n.1509T>G
ENST00000699700.1:n.1632T>G
ENST00000699701.1:c.*565T>G	ENSP00000514528.1:n.*565T>G
ENST00000267415.12:c.1097T>G MANE Select	ENSP00000267415.7:p.Leu366Arg
ENST00000646753.1:c.992T>G	ENSP00000494065.1:p.Leu331Arg
ENST00000267415.11:c.1097T>G	ENSP00000267415.7:p.Leu366Arg
ENST00000399423.8:c.*120T>G	ENSP00000382350.4:n.*120T>G
ENST00000557915.1:n.304T>G
ENST00000558566.1:c.*557T>G	ENSP00000453025.1:n.*557T>G
ENST00000559969.5:c.943T>G
ENST00000560019.5:c.92T>G	ENSP00000453113.1:p.Leu31Arg
ENST00000626689.2:c.*469T>G	ENSP00000486681.1:n.*469T>G
NM_001099274.1:c.1097T>G	NP_001092744.1:p.Leu366Arg
NM_012461.2:c.*120T>G	NP_036593.2:n.*120T>G
XM_005267528.2:c.1097T>G	XP_005267585.1:p.Leu366Arg
XM_005267529.2:c.992T>G	XP_005267586.1:p.Leu331Arg
NM_001099274.2:c.1097T>G	NP_001092744.1:p.Leu366Arg
NM_001363668.1:c.992T>G	NP_001350597.1:p.Leu331Arg
NM_012461.3:c.*120T>G	NP_036593.2:n.*120T>G
XM_011536642.2:c.*565T>G	XP_011534944.1:n.*565T>G
XM_017021216.2:c.455T>G	XP_016876705.1:p.Leu152Arg
XM_017021217.1:c.455T>G	XP_016876706.1:p.Leu152Arg
NM_001099274.3:c.1097T>G MANE Select	NP_001092744.1:p.Leu366Arg
NM_001363668.2:c.992T>G	NP_001350597.1:p.Leu331Arg