Canonical Allele Identifier: CA389223572

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709655G>T (hg19) ; chr14:g.24240449G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240449G>T , CM000676.2:g.24240449G>T	GRCh38
NC_000014.8:g.24709655G>T , CM000676.1:g.24709655G>T	GRCh37
NC_000014.7:g.23779495G>T	NCBI36
NG_016650.1:g.7226C>A
NG_054634.1:g.13033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1334C>A
ENST00000557921.3:c.923C>A	ENSP00000453157.3:p.Pro308Gln
ENST00000699682.1:n.1421C>A
ENST00000699683.1:n.1471C>A
ENST00000699684.1:c.*624C>A	ENSP00000514523.1:n.*624C>A
ENST00000699685.1:n.1235C>A
ENST00000699686.1:c.824C>A	ENSP00000514524.1:p.Pro275Gln
ENST00000699687.1:c.926C>A	ENSP00000514525.1:p.Pro309Gln
ENST00000699688.1:n.1231C>A
ENST00000699689.1:n.1587C>A
ENST00000699690.1:n.1784C>A
ENST00000699691.1:n.1928C>A
ENST00000699693.1:n.1448C>A
ENST00000699694.1:n.1690C>A
ENST00000699695.1:c.*403C>A	ENSP00000514526.1:n.*403C>A
ENST00000699696.1:n.1334C>A
ENST00000699697.1:c.1031C>A	ENSP00000514527.1:p.Pro344Gln
ENST00000699698.1:n.952C>A
ENST00000699699.1:n.1355C>A
ENST00000699700.1:n.1478C>A
ENST00000699701.1:c.*411C>A	ENSP00000514528.1:n.*411C>A
ENST00000267415.12:c.1031C>A MANE Select	ENSP00000267415.7:p.Pro344Gln
ENST00000646753.1:c.926C>A	ENSP00000494065.1:p.Pro309Gln
ENST00000267415.11:c.1031C>A	ENSP00000267415.7:p.Pro344Gln
ENST00000399423.8:c.1031C>A	ENSP00000382350.4:p.Pro344Gln
ENST00000557915.1:n.150C>A
ENST00000558566.1:c.*403C>A	ENSP00000453025.1:n.*403C>A
ENST00000559969.5:c.789C>A
ENST00000560019.5:c.26C>A	ENSP00000453113.1:p.Pro9Gln
ENST00000626689.2:c.*403C>A	ENSP00000486681.1:n.*403C>A
NM_001099274.1:c.1031C>A	NP_001092744.1:p.Pro344Gln
NM_012461.2:c.1031C>A	NP_036593.2:p.Pro344Gln
XM_005267528.2:c.1031C>A	XP_005267585.1:p.Pro344Gln
XM_005267529.2:c.926C>A	XP_005267586.1:p.Pro309Gln
NM_001099274.2:c.1031C>A	NP_001092744.1:p.Pro344Gln
NM_001363668.1:c.926C>A	NP_001350597.1:p.Pro309Gln
NM_012461.3:c.1031C>A	NP_036593.2:p.Pro344Gln
XM_011536642.2:c.*411C>A	XP_011534944.1:n.*411C>A
XM_017021216.2:c.389C>A	XP_016876705.1:p.Pro130Gln
XM_017021217.1:c.389C>A	XP_016876706.1:p.Pro130Gln
NM_001099274.3:c.1031C>A MANE Select	NP_001092744.1:p.Pro344Gln
NM_001363668.2:c.926C>A	NP_001350597.1:p.Pro309Gln