Canonical Allele Identifier: CA485782250

Gene: TINF2

Linked Data

• dbSNP Id: rs1245809749
• gnomAD v2: 14-24709909-A-G
• gnomAD v3: 14-24240703-A-G
• gnomAD v4: 14-24240703-A-G
• MyVariant Identifiers: chr14:g.24709909A>G (hg19) ; chr14:g.24240703A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240703A>G , CM000676.2:g.24240703A>G	GRCh38
NC_000014.8:g.24709909A>G , CM000676.1:g.24709909A>G	GRCh37
NC_000014.7:g.23779749A>G	NCBI36
NG_016650.1:g.6972T>C
NG_054634.1:g.13287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1080T>C
ENST00000557921.3:c.669T>C	ENSP00000453157.3:p.Asn223=
ENST00000699682.1:n.1167T>C
ENST00000699683.1:n.1217T>C
ENST00000699684.1:c.*370T>C	ENSP00000514523.1:n.*370T>C
ENST00000699685.1:n.981T>C
ENST00000699686.1:c.570T>C	ENSP00000514524.1:p.Asn190=
ENST00000699687.1:c.672T>C	ENSP00000514525.1:p.Asn224=
ENST00000699688.1:n.977T>C
ENST00000699689.1:n.1333T>C
ENST00000699690.1:n.1530T>C
ENST00000699691.1:n.1674T>C
ENST00000699693.1:n.1194T>C
ENST00000699694.1:n.1436T>C
ENST00000699695.1:c.*149T>C	ENSP00000514526.1:n.*149T>C
ENST00000699696.1:n.1080T>C
ENST00000699697.1:c.777T>C	ENSP00000514527.1:p.Asn259=
ENST00000699698.1:n.698T>C
ENST00000699699.1:n.1101T>C
ENST00000699700.1:n.1224T>C
ENST00000699701.1:c.*157T>C	ENSP00000514528.1:n.*157T>C
ENST00000267415.12:c.777T>C MANE Select	ENSP00000267415.7:p.Asn259=
ENST00000557921.2:c.669T>C	ENSP00000453157.2:p.Asn223=
ENST00000646753.1:c.672T>C	ENSP00000494065.1:p.Asn224=
ENST00000267415.11:c.777T>C	ENSP00000267415.7:p.Asn259=
ENST00000399423.8:c.777T>C	ENSP00000382350.4:p.Asn259=
ENST00000558476.5:c.339T>C	ENSP00000452724.1:p.Asn113=
ENST00000558566.1:c.*149T>C	ENSP00000453025.1:n.*149T>C
ENST00000559019.1:c.*149T>C	ENSP00000453675.1:n.*149T>C
ENST00000559549.1:n.503T>C
ENST00000559969.5:c.733T>C
ENST00000626689.2:c.*149T>C	ENSP00000486681.1:n.*149T>C
NM_001099274.1:c.777T>C	NP_001092744.1:p.Asn259=
NM_012461.2:c.777T>C	NP_036593.2:p.Asn259=
XM_005267528.2:c.777T>C	XP_005267585.1:p.Asn259=
XM_005267529.2:c.672T>C	XP_005267586.1:p.Asn224=
NM_001099274.2:c.777T>C	NP_001092744.1:p.Asn259=
NM_001363668.1:c.672T>C	NP_001350597.1:p.Asn224=
NM_012461.3:c.777T>C	NP_036593.2:p.Asn259=
XM_011536642.2:c.*157T>C	XP_011534944.1:n.*157T>C
XM_017021216.2:c.135T>C	XP_016876705.1:p.Asn45=
XM_017021217.1:c.135T>C	XP_016876706.1:p.Asn45=
NM_001099274.3:c.777T>C MANE Select	NP_001092744.1:p.Asn259=
NM_001363668.2:c.672T>C	NP_001350597.1:p.Asn224=