Canonical Allele Identifier: CA485782222

Gene: TINF2

Linked Data

• dbSNP Id: rs1212809122
• gnomAD v2: 14-24709669-A-G
• MyVariant Identifiers: chr14:g.24709669A>G (hg19) ; chr14:g.24240463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240463A>G , CM000676.2:g.24240463A>G	GRCh38
NC_000014.8:g.24709669A>G , CM000676.1:g.24709669A>G	GRCh37
NC_000014.7:g.23779509A>G	NCBI36
NG_016650.1:g.7212T>C
NG_054634.1:g.13047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1320T>C
ENST00000557921.3:c.909T>C	ENSP00000453157.3:p.Ala303=
ENST00000699682.1:n.1407T>C
ENST00000699683.1:n.1457T>C
ENST00000699684.1:c.*610T>C	ENSP00000514523.1:n.*610T>C
ENST00000699685.1:n.1221T>C
ENST00000699686.1:c.810T>C	ENSP00000514524.1:p.Ala270=
ENST00000699687.1:c.912T>C	ENSP00000514525.1:p.Ala304=
ENST00000699688.1:n.1217T>C
ENST00000699689.1:n.1573T>C
ENST00000699690.1:n.1770T>C
ENST00000699691.1:n.1914T>C
ENST00000699693.1:n.1434T>C
ENST00000699694.1:n.1676T>C
ENST00000699695.1:c.*389T>C	ENSP00000514526.1:n.*389T>C
ENST00000699696.1:n.1320T>C
ENST00000699697.1:c.1017T>C	ENSP00000514527.1:p.Ala339=
ENST00000699698.1:n.938T>C
ENST00000699699.1:n.1341T>C
ENST00000699700.1:n.1464T>C
ENST00000699701.1:c.*397T>C	ENSP00000514528.1:n.*397T>C
ENST00000267415.12:c.1017T>C MANE Select	ENSP00000267415.7:p.Ala339=
ENST00000646753.1:c.912T>C	ENSP00000494065.1:p.Ala304=
ENST00000267415.11:c.1017T>C	ENSP00000267415.7:p.Ala339=
ENST00000399423.8:c.1017T>C	ENSP00000382350.4:p.Ala339=
ENST00000557915.1:n.136T>C
ENST00000558566.1:c.*389T>C	ENSP00000453025.1:n.*389T>C
ENST00000559969.5:c.775T>C
ENST00000560019.5:c.12T>C	ENSP00000453113.1:p.Ala4=
ENST00000626689.2:c.*389T>C	ENSP00000486681.1:n.*389T>C
NM_001099274.1:c.1017T>C	NP_001092744.1:p.Ala339=
NM_012461.2:c.1017T>C	NP_036593.2:p.Ala339=
XM_005267528.2:c.1017T>C	XP_005267585.1:p.Ala339=
XM_005267529.2:c.912T>C	XP_005267586.1:p.Ala304=
NM_001099274.2:c.1017T>C	NP_001092744.1:p.Ala339=
NM_001363668.1:c.912T>C	NP_001350597.1:p.Ala304=
NM_012461.3:c.1017T>C	NP_036593.2:p.Ala339=
XM_011536642.2:c.*397T>C	XP_011534944.1:n.*397T>C
XM_017021216.2:c.375T>C	XP_016876705.1:p.Ala125=
XM_017021217.1:c.375T>C	XP_016876706.1:p.Ala125=
NM_001099274.3:c.1017T>C MANE Select	NP_001092744.1:p.Ala339=
NM_001363668.2:c.912T>C	NP_001350597.1:p.Ala304=