Canonical Allele Identifier: CA485782126

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709825C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240619C>A , CM000676.2:g.24240619C>A	GRCh38
NC_000014.8:g.24709825C>A , CM000676.1:g.24709825C>A	GRCh37
NC_000014.7:g.23779665C>A	NCBI36
NG_016650.1:g.7056G>T
NG_054634.1:g.13203C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1164G>T
ENST00000557921.3:c.753G>T	ENSP00000453157.3:p.Leu251=
ENST00000699682.1:n.1251G>T
ENST00000699683.1:n.1301G>T
ENST00000699684.1:c.*454G>T	ENSP00000514523.1:n.*454G>T
ENST00000699685.1:n.1065G>T
ENST00000699686.1:c.654G>T	ENSP00000514524.1:p.Leu218=
ENST00000699687.1:c.756G>T	ENSP00000514525.1:p.Leu252=
ENST00000699688.1:n.1061G>T
ENST00000699689.1:n.1417G>T
ENST00000699690.1:n.1614G>T
ENST00000699691.1:n.1758G>T
ENST00000699693.1:n.1278G>T
ENST00000699694.1:n.1520G>T
ENST00000699695.1:c.*233G>T	ENSP00000514526.1:n.*233G>T
ENST00000699696.1:n.1164G>T
ENST00000699697.1:c.861G>T	ENSP00000514527.1:p.Leu287=
ENST00000699698.1:n.782G>T
ENST00000699699.1:n.1185G>T
ENST00000699700.1:n.1308G>T
ENST00000699701.1:c.*241G>T	ENSP00000514528.1:n.*241G>T
ENST00000267415.12:c.861G>T MANE Select	ENSP00000267415.7:p.Leu287=
ENST00000557921.2:c.753G>T	ENSP00000453157.2:p.Leu251=
ENST00000646753.1:c.756G>T	ENSP00000494065.1:p.Leu252=
ENST00000267415.11:c.861G>T	ENSP00000267415.7:p.Leu287=
ENST00000399423.8:c.861G>T	ENSP00000382350.4:p.Leu287=
ENST00000558476.5:c.423G>T	ENSP00000452724.1:p.Leu141=
ENST00000558566.1:c.*233G>T	ENSP00000453025.1:n.*233G>T
ENST00000559019.1:c.*233G>T	ENSP00000453675.1:n.*233G>T
ENST00000559549.1:n.587G>T
ENST00000559969.5:c.757+60G>T
ENST00000626689.2:c.*233G>T	ENSP00000486681.1:n.*233G>T
NM_001099274.1:c.861G>T	NP_001092744.1:p.Leu287=
NM_012461.2:c.861G>T	NP_036593.2:p.Leu287=
XM_005267528.2:c.861G>T	XP_005267585.1:p.Leu287=
XM_005267529.2:c.756G>T	XP_005267586.1:p.Leu252=
NM_001099274.2:c.861G>T	NP_001092744.1:p.Leu287=
NM_001363668.1:c.756G>T	NP_001350597.1:p.Leu252=
NM_012461.3:c.861G>T	NP_036593.2:p.Leu287=
XM_011536642.2:c.*241G>T	XP_011534944.1:n.*241G>T
XM_017021216.2:c.219G>T	XP_016876705.1:p.Leu73=
XM_017021217.1:c.219G>T	XP_016876706.1:p.Leu73=
NM_001099274.3:c.861G>T MANE Select	NP_001092744.1:p.Leu287=
NM_001363668.2:c.756G>T	NP_001350597.1:p.Leu252=