Canonical Allele Identifier: CA7130494

Gene: TINF2

Linked Data

• dbSNP Id: rs780047002
• ExAC: 14:24709453 G / A
• gnomAD v2: 14-24709453-G-A
• gnomAD v4: 14-24240247-G-A
• MyVariant Identifiers: chr14:g.24709453G>A (hg19) ; chr14:g.24240247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240247G>A , CM000676.2:g.24240247G>A	GRCh38
NC_000014.8:g.24709453G>A , CM000676.1:g.24709453G>A	GRCh37
NC_000014.7:g.23779293G>A	NCBI36
NG_016650.1:g.7428C>T
NG_054634.1:g.12831G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1520+16C>T
ENST00000557921.3:c.*168C>T	ENSP00000453157.3:n.*168C>T
ENST00000699682.1:n.1623C>T
ENST00000699683.1:n.1673C>T
ENST00000699684.1:c.*826C>T	ENSP00000514523.1:n.*826C>T
ENST00000699685.1:n.1437C>T
ENST00000699686.1:c.*168C>T	ENSP00000514524.1:n.*168C>T
ENST00000699687.1:c.*168C>T	ENSP00000514525.1:n.*168C>T
ENST00000699688.1:n.1433C>T
ENST00000699689.1:n.1789C>T
ENST00000699690.1:n.1986C>T
ENST00000699691.1:n.2130C>T
ENST00000699692.1:n.68+16C>T
ENST00000699693.1:n.1546+16C>T
ENST00000699694.1:n.1892C>T
ENST00000699695.1:c.*501+16C>T	ENSP00000514526.1:n.*501+16C>T
ENST00000699696.1:n.1520+16C>T
ENST00000699697.1:c.*8C>T	ENSP00000514527.1:n.*8C>T
ENST00000699698.1:n.1066C>T
ENST00000699699.1:n.1557C>T
ENST00000699700.1:n.1680C>T
ENST00000699701.1:c.*613C>T	ENSP00000514528.1:n.*613C>T
ENST00000267415.12:c.1129+16C>T MANE Select	ENSP00000267415.7:n.1129+16C>T
ENST00000646753.1:c.1024+16C>T	ENSP00000494065.1:n.1024+16C>T
ENST00000267415.11:c.1129+16C>T	ENSP00000267415.7:n.1129+16C>T
ENST00000399423.8:c.*168C>T	ENSP00000382350.4:n.*168C>T
ENST00000557915.1:n.336+16C>T
ENST00000558566.1:c.*605C>T	ENSP00000453025.1:n.*605C>T
ENST00000559969.5:c.991C>T
ENST00000560019.5:c.124+16C>T	ENSP00000453113.1:n.124+16C>T
ENST00000626689.2:c.*501+16C>T	ENSP00000486681.1:n.*501+16C>T
NM_001099274.1:c.1129+16C>T	NP_001092744.1:n.1129+16C>T
NM_012461.2:c.*168C>T	NP_036593.2:n.*168C>T
XM_005267528.2:c.1129+16C>T	XP_005267585.1:n.1129+16C>T
XM_005267529.2:c.1024+16C>T	XP_005267586.1:n.1024+16C>T
NM_001099274.2:c.1129+16C>T	NP_001092744.1:n.1129+16C>T
NM_001363668.1:c.1024+16C>T	NP_001350597.1:n.1024+16C>T
NM_012461.3:c.*168C>T	NP_036593.2:n.*168C>T
XM_011536642.2:c.*613C>T	XP_011534944.1:n.*613C>T
XM_017021216.2:c.487+16C>T	XP_016876705.1:n.487+16C>T
XM_017021217.1:c.487+16C>T	XP_016876706.1:n.487+16C>T
NM_001099274.3:c.1129+16C>T MANE Select	NP_001092744.1:n.1129+16C>T
NM_001363668.2:c.1024+16C>T	NP_001350597.1:n.1024+16C>T