Canonical Allele Identifier: CA389225339

Gene: TINF2

Linked Data

• ClinVar Variation Id: 444325
• ClinVar RCV Id: RCV000513272
• dbSNP Id: rs1555304055
• MyVariant Identifiers: chr14:g.24709821G>A (hg19) ; chr14:g.24240615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240615G>A , CM000676.2:g.24240615G>A	GRCh38
NC_000014.8:g.24709821G>A , CM000676.1:g.24709821G>A	GRCh37
NC_000014.7:g.23779661G>A	NCBI36
NG_016650.1:g.7060C>T
NG_054634.1:g.13199G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1168C>T
ENST00000557921.3:c.757C>T	ENSP00000453157.3:p.Pro253Ser
ENST00000699682.1:n.1255C>T
ENST00000699683.1:n.1305C>T
ENST00000699684.1:c.*458C>T	ENSP00000514523.1:n.*458C>T
ENST00000699685.1:n.1069C>T
ENST00000699686.1:c.658C>T	ENSP00000514524.1:p.Pro220Ser
ENST00000699687.1:c.760C>T	ENSP00000514525.1:p.Pro254Ser
ENST00000699688.1:n.1065C>T
ENST00000699689.1:n.1421C>T
ENST00000699690.1:n.1618C>T
ENST00000699691.1:n.1762C>T
ENST00000699693.1:n.1282C>T
ENST00000699694.1:n.1524C>T
ENST00000699695.1:c.*237C>T	ENSP00000514526.1:n.*237C>T
ENST00000699696.1:n.1168C>T
ENST00000699697.1:c.865C>T	ENSP00000514527.1:p.Pro289Ser
ENST00000699698.1:n.786C>T
ENST00000699699.1:n.1189C>T
ENST00000699700.1:n.1312C>T
ENST00000699701.1:c.*245C>T	ENSP00000514528.1:n.*245C>T
ENST00000267415.12:c.865C>T MANE Select	ENSP00000267415.7:p.Pro289Ser
ENST00000557921.2:c.757C>T	ENSP00000453157.2:p.Pro253Ser
ENST00000646753.1:c.760C>T	ENSP00000494065.1:p.Pro254Ser
ENST00000267415.11:c.865C>T	ENSP00000267415.7:p.Pro289Ser
ENST00000399423.8:c.865C>T	ENSP00000382350.4:p.Pro289Ser
ENST00000558476.5:c.427C>T	ENSP00000452724.1:p.Pro143Ser
ENST00000558566.1:c.*237C>T	ENSP00000453025.1:n.*237C>T
ENST00000559019.1:c.*237C>T	ENSP00000453675.1:n.*237C>T
ENST00000559549.1:n.591C>T
ENST00000559969.5:c.757+64C>T
ENST00000626689.2:c.*237C>T	ENSP00000486681.1:n.*237C>T
NM_001099274.1:c.865C>T	NP_001092744.1:p.Pro289Ser
NM_012461.2:c.865C>T	NP_036593.2:p.Pro289Ser
XM_005267528.2:c.865C>T	XP_005267585.1:p.Pro289Ser
XM_005267529.2:c.760C>T	XP_005267586.1:p.Pro254Ser
NM_001099274.2:c.865C>T	NP_001092744.1:p.Pro289Ser
NM_001363668.1:c.760C>T	NP_001350597.1:p.Pro254Ser
NM_012461.3:c.865C>T	NP_036593.2:p.Pro289Ser
XM_011536642.2:c.*245C>T	XP_011534944.1:n.*245C>T
XM_017021216.2:c.223C>T	XP_016876705.1:p.Pro75Ser
XM_017021217.1:c.223C>T	XP_016876706.1:p.Pro75Ser
NM_001099274.3:c.865C>T MANE Select	NP_001092744.1:p.Pro289Ser
NM_001363668.2:c.760C>T	NP_001350597.1:p.Pro254Ser