Canonical Allele Identifier: CA7130525

Gene: TINF2

Linked Data

• dbSNP Id: rs770864224
• ExAC: 14:24709646 A / G
• gnomAD v2: 14-24709646-A-G
• gnomAD v4: 14-24240440-A-G
• MyVariant Identifiers: chr14:g.24709646A>G (hg19) ; chr14:g.24240440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240440A>G , CM000676.2:g.24240440A>G	GRCh38
NC_000014.8:g.24709646A>G , CM000676.1:g.24709646A>G	GRCh37
NC_000014.7:g.23779486A>G	NCBI36
NG_016650.1:g.7235T>C
NG_054634.1:g.13024A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1343T>C
ENST00000557921.3:c.932T>C	ENSP00000453157.3:p.Leu311Ser
ENST00000699682.1:n.1430T>C
ENST00000699683.1:n.1480T>C
ENST00000699684.1:c.*633T>C	ENSP00000514523.1:n.*633T>C
ENST00000699685.1:n.1244T>C
ENST00000699686.1:c.833T>C	ENSP00000514524.1:p.Leu278Ser
ENST00000699687.1:c.935T>C	ENSP00000514525.1:p.Leu312Ser
ENST00000699688.1:n.1240T>C
ENST00000699689.1:n.1596T>C
ENST00000699690.1:n.1793T>C
ENST00000699691.1:n.1937T>C
ENST00000699693.1:n.1457T>C
ENST00000699694.1:n.1699T>C
ENST00000699695.1:c.*412T>C	ENSP00000514526.1:n.*412T>C
ENST00000699696.1:n.1343T>C
ENST00000699697.1:c.1040T>C	ENSP00000514527.1:p.Leu347Ser
ENST00000699698.1:n.961T>C
ENST00000699699.1:n.1364T>C
ENST00000699700.1:n.1487T>C
ENST00000699701.1:c.*420T>C	ENSP00000514528.1:n.*420T>C
ENST00000267415.12:c.1040T>C MANE Select	ENSP00000267415.7:p.Leu347Ser
ENST00000646753.1:c.935T>C	ENSP00000494065.1:p.Leu312Ser
ENST00000267415.11:c.1040T>C	ENSP00000267415.7:p.Leu347Ser
ENST00000399423.8:c.1040T>C	ENSP00000382350.4:p.Leu347Ser
ENST00000557915.1:n.159T>C
ENST00000558566.1:c.*412T>C	ENSP00000453025.1:n.*412T>C
ENST00000559969.5:c.798T>C
ENST00000560019.5:c.35T>C	ENSP00000453113.1:p.Leu12Ser
ENST00000626689.2:c.*412T>C	ENSP00000486681.1:n.*412T>C
NM_001099274.1:c.1040T>C	NP_001092744.1:p.Leu347Ser
NM_012461.2:c.1040T>C	NP_036593.2:p.Leu347Ser
XM_005267528.2:c.1040T>C	XP_005267585.1:p.Leu347Ser
XM_005267529.2:c.935T>C	XP_005267586.1:p.Leu312Ser
NM_001099274.2:c.1040T>C	NP_001092744.1:p.Leu347Ser
NM_001363668.1:c.935T>C	NP_001350597.1:p.Leu312Ser
NM_012461.3:c.1040T>C	NP_036593.2:p.Leu347Ser
XM_011536642.2:c.*420T>C	XP_011534944.1:n.*420T>C
XM_017021216.2:c.398T>C	XP_016876705.1:p.Leu133Ser
XM_017021217.1:c.398T>C	XP_016876706.1:p.Leu133Ser
NM_001099274.3:c.1040T>C MANE Select	NP_001092744.1:p.Leu347Ser
NM_001363668.2:c.935T>C	NP_001350597.1:p.Leu312Ser