Canonical Allele Identifier: CA7130526

Gene: TINF2

Linked Data

• dbSNP Id: rs774222737
• ExAC: 14:24709655 G / C
• gnomAD v2: 14-24709655-G-C
• gnomAD v4: 14-24240449-G-C
• MyVariant Identifiers: chr14:g.24709655G>C (hg19) ; chr14:g.24240449G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1334C>G
ENST00000557921.3:c.923C>G	ENSP00000453157.3:p.Pro308Arg
ENST00000699682.1:n.1421C>G
ENST00000699683.1:n.1471C>G
ENST00000699684.1:c.*624C>G	ENSP00000514523.1:n.*624C>G
ENST00000699685.1:n.1235C>G
ENST00000699686.1:c.824C>G	ENSP00000514524.1:p.Pro275Arg
ENST00000699687.1:c.926C>G	ENSP00000514525.1:p.Pro309Arg
ENST00000699688.1:n.1231C>G
ENST00000699689.1:n.1587C>G
ENST00000699690.1:n.1784C>G
ENST00000699691.1:n.1928C>G
ENST00000699693.1:n.1448C>G
ENST00000699694.1:n.1690C>G
ENST00000699695.1:c.*403C>G	ENSP00000514526.1:n.*403C>G
ENST00000699696.1:n.1334C>G
ENST00000699697.1:c.1031C>G	ENSP00000514527.1:p.Pro344Arg
ENST00000699698.1:n.952C>G
ENST00000699699.1:n.1355C>G
ENST00000699700.1:n.1478C>G
ENST00000699701.1:c.*411C>G	ENSP00000514528.1:n.*411C>G
ENST00000267415.12:c.1031C>G MANE Select	ENSP00000267415.7:p.Pro344Arg
ENST00000646753.1:c.926C>G	ENSP00000494065.1:p.Pro309Arg
ENST00000267415.11:c.1031C>G	ENSP00000267415.7:p.Pro344Arg
ENST00000399423.8:c.1031C>G	ENSP00000382350.4:p.Pro344Arg
ENST00000557915.1:n.150C>G
ENST00000558566.1:c.*403C>G	ENSP00000453025.1:n.*403C>G
ENST00000559969.5:c.789C>G
ENST00000560019.5:c.26C>G	ENSP00000453113.1:p.Pro9Arg
ENST00000626689.2:c.*403C>G	ENSP00000486681.1:n.*403C>G
NM_001099274.1:c.1031C>G	NP_001092744.1:p.Pro344Arg
NM_012461.2:c.1031C>G	NP_036593.2:p.Pro344Arg
XM_005267528.2:c.1031C>G	XP_005267585.1:p.Pro344Arg
XM_005267529.2:c.926C>G	XP_005267586.1:p.Pro309Arg
NM_001099274.2:c.1031C>G	NP_001092744.1:p.Pro344Arg
NM_001363668.1:c.926C>G	NP_001350597.1:p.Pro309Arg
NM_012461.3:c.1031C>G	NP_036593.2:p.Pro344Arg
XM_011536642.2:c.*411C>G	XP_011534944.1:n.*411C>G
XM_017021216.2:c.389C>G	XP_016876705.1:p.Pro130Arg
XM_017021217.1:c.389C>G	XP_016876706.1:p.Pro130Arg
NM_001099274.3:c.1031C>G MANE Select	NP_001092744.1:p.Pro344Arg
NM_001363668.2:c.926C>G	NP_001350597.1:p.Pro309Arg