Canonical Allele Identifier: CA389222619

Gene: TINF2

Linked Data

• dbSNP Id: rs2040541646
• gnomAD v4: 14-24240283-G-A
• MyVariant Identifiers: chr14:g.24709489G>A (hg19) ; chr14:g.24240283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240283G>A , CM000676.2:g.24240283G>A	GRCh38
NC_000014.8:g.24709489G>A , CM000676.1:g.24709489G>A	GRCh37
NC_000014.7:g.23779329G>A	NCBI36
NG_016650.1:g.7392C>T
NG_054634.1:g.12867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1500C>T
ENST00000557921.3:c.*132C>T	ENSP00000453157.3:n.*132C>T
ENST00000699682.1:n.1587C>T
ENST00000699683.1:n.1637C>T
ENST00000699684.1:c.*790C>T	ENSP00000514523.1:n.*790C>T
ENST00000699685.1:n.1401C>T
ENST00000699686.1:c.*132C>T	ENSP00000514524.1:n.*132C>T
ENST00000699687.1:c.*132C>T	ENSP00000514525.1:n.*132C>T
ENST00000699688.1:n.1397C>T
ENST00000699689.1:n.1753C>T
ENST00000699690.1:n.1950C>T
ENST00000699691.1:n.2094C>T
ENST00000699692.1:n.48C>T
ENST00000699693.1:n.1526C>T
ENST00000699694.1:n.1856C>T
ENST00000699695.1:c.*481C>T	ENSP00000514526.1:n.*481C>T
ENST00000699696.1:n.1500C>T
ENST00000699697.1:c.1109C>T	ENSP00000514527.1:p.Pro370Leu
ENST00000699698.1:n.1030C>T
ENST00000699699.1:n.1521C>T
ENST00000699700.1:n.1644C>T
ENST00000699701.1:c.*577C>T	ENSP00000514528.1:n.*577C>T
ENST00000267415.12:c.1109C>T MANE Select	ENSP00000267415.7:p.Pro370Leu
ENST00000646753.1:c.1004C>T	ENSP00000494065.1:p.Pro335Leu
ENST00000267415.11:c.1109C>T	ENSP00000267415.7:p.Pro370Leu
ENST00000399423.8:c.*132C>T	ENSP00000382350.4:n.*132C>T
ENST00000557915.1:n.316C>T
ENST00000558566.1:c.*569C>T	ENSP00000453025.1:n.*569C>T
ENST00000559969.5:c.955C>T
ENST00000560019.5:c.104C>T	ENSP00000453113.1:p.Pro35Leu
ENST00000626689.2:c.*481C>T	ENSP00000486681.1:n.*481C>T
NM_001099274.1:c.1109C>T	NP_001092744.1:p.Pro370Leu
NM_012461.2:c.*132C>T	NP_036593.2:n.*132C>T
XM_005267528.2:c.1109C>T	XP_005267585.1:p.Pro370Leu
XM_005267529.2:c.1004C>T	XP_005267586.1:p.Pro335Leu
NM_001099274.2:c.1109C>T	NP_001092744.1:p.Pro370Leu
NM_001363668.1:c.1004C>T	NP_001350597.1:p.Pro335Leu
NM_012461.3:c.*132C>T	NP_036593.2:n.*132C>T
XM_011536642.2:c.*577C>T	XP_011534944.1:n.*577C>T
XM_017021216.2:c.467C>T	XP_016876705.1:p.Pro156Leu
XM_017021217.1:c.467C>T	XP_016876706.1:p.Pro156Leu
NM_001099274.3:c.1109C>T MANE Select	NP_001092744.1:p.Pro370Leu
NM_001363668.2:c.1004C>T	NP_001350597.1:p.Pro335Leu