Canonical Allele Identifier: CA389223348

Gene: TINF2

Linked Data

• dbSNP Id: rs1450781183
• gnomAD v2: 14-24709629-T-G
• gnomAD v4: 14-24240423-T-G
• COSMIC: COSM4943449 ; COSM4943450
• MyVariant Identifiers: chr14:g.24709629T>G (hg19) ; chr14:g.24240423T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240423T>G , CM000676.2:g.24240423T>G	GRCh38
NC_000014.8:g.24709629T>G , CM000676.1:g.24709629T>G	GRCh37
NC_000014.7:g.23779469T>G	NCBI36
NG_016650.1:g.7252A>C
NG_054634.1:g.13007T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1360A>C
ENST00000557921.3:c.949A>C	ENSP00000453157.3:p.Lys317Gln
ENST00000699682.1:n.1447A>C
ENST00000699683.1:n.1497A>C
ENST00000699684.1:c.*650A>C	ENSP00000514523.1:n.*650A>C
ENST00000699685.1:n.1261A>C
ENST00000699686.1:c.850A>C	ENSP00000514524.1:p.Lys284Gln
ENST00000699687.1:c.952A>C	ENSP00000514525.1:p.Lys318Gln
ENST00000699688.1:n.1257A>C
ENST00000699689.1:n.1613A>C
ENST00000699690.1:n.1810A>C
ENST00000699691.1:n.1954A>C
ENST00000699693.1:n.1474A>C
ENST00000699694.1:n.1716A>C
ENST00000699695.1:c.*429A>C	ENSP00000514526.1:n.*429A>C
ENST00000699696.1:n.1360A>C
ENST00000699697.1:c.1057A>C	ENSP00000514527.1:p.Lys353Gln
ENST00000699698.1:n.978A>C
ENST00000699699.1:n.1381A>C
ENST00000699700.1:n.1504A>C
ENST00000699701.1:c.*437A>C	ENSP00000514528.1:n.*437A>C
ENST00000267415.12:c.1057A>C MANE Select	ENSP00000267415.7:p.Lys353Gln
ENST00000646753.1:c.952A>C	ENSP00000494065.1:p.Lys318Gln
ENST00000267415.11:c.1057A>C	ENSP00000267415.7:p.Lys353Gln
ENST00000399423.8:c.1057A>C	ENSP00000382350.4:p.Lys353Gln
ENST00000557915.1:n.176A>C
ENST00000558566.1:c.*429A>C	ENSP00000453025.1:n.*429A>C
ENST00000559969.5:c.815A>C
ENST00000560019.5:c.52A>C	ENSP00000453113.1:p.Lys18Gln
ENST00000626689.2:c.*429A>C	ENSP00000486681.1:n.*429A>C
NM_001099274.1:c.1057A>C	NP_001092744.1:p.Lys353Gln
NM_012461.2:c.1057A>C	NP_036593.2:p.Lys353Gln
XM_005267528.2:c.1057A>C	XP_005267585.1:p.Lys353Gln
XM_005267529.2:c.952A>C	XP_005267586.1:p.Lys318Gln
NM_001099274.2:c.1057A>C	NP_001092744.1:p.Lys353Gln
NM_001363668.1:c.952A>C	NP_001350597.1:p.Lys318Gln
NM_012461.3:c.1057A>C	NP_036593.2:p.Lys353Gln
XM_011536642.2:c.*437A>C	XP_011534944.1:n.*437A>C
XM_017021216.2:c.415A>C	XP_016876705.1:p.Lys139Gln
XM_017021217.1:c.415A>C	XP_016876706.1:p.Lys139Gln
NM_001099274.3:c.1057A>C MANE Select	NP_001092744.1:p.Lys353Gln
NM_001363668.2:c.952A>C	NP_001350597.1:p.Lys318Gln