Canonical Allele Identifier: CA389225543

Gene: TINF2

Linked Data

• dbSNP Id: rs763346541
• gnomAD v4: 14-24240637-C-G
• MyVariant Identifiers: chr14:g.24709843C>G (hg19) ; chr14:g.24240637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240637C>G , CM000676.2:g.24240637C>G	GRCh38
NC_000014.8:g.24709843C>G , CM000676.1:g.24709843C>G	GRCh37
NC_000014.7:g.23779683C>G	NCBI36
NG_016650.1:g.7038G>C
NG_054634.1:g.13221C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1146G>C
ENST00000557921.3:c.735G>C	ENSP00000453157.3:p.Glu245Asp
ENST00000699682.1:n.1233G>C
ENST00000699683.1:n.1283G>C
ENST00000699684.1:c.*436G>C	ENSP00000514523.1:n.*436G>C
ENST00000699685.1:n.1047G>C
ENST00000699686.1:c.636G>C	ENSP00000514524.1:p.Glu212Asp
ENST00000699687.1:c.738G>C	ENSP00000514525.1:p.Glu246Asp
ENST00000699688.1:n.1043G>C
ENST00000699689.1:n.1399G>C
ENST00000699690.1:n.1596G>C
ENST00000699691.1:n.1740G>C
ENST00000699693.1:n.1260G>C
ENST00000699694.1:n.1502G>C
ENST00000699695.1:c.*215G>C	ENSP00000514526.1:n.*215G>C
ENST00000699696.1:n.1146G>C
ENST00000699697.1:c.843G>C	ENSP00000514527.1:p.Glu281Asp
ENST00000699698.1:n.764G>C
ENST00000699699.1:n.1167G>C
ENST00000699700.1:n.1290G>C
ENST00000699701.1:c.*223G>C	ENSP00000514528.1:n.*223G>C
ENST00000267415.12:c.843G>C MANE Select	ENSP00000267415.7:p.Glu281Asp
ENST00000557921.2:c.735G>C	ENSP00000453157.2:p.Glu245Asp
ENST00000646753.1:c.738G>C	ENSP00000494065.1:p.Glu246Asp
ENST00000267415.11:c.843G>C	ENSP00000267415.7:p.Glu281Asp
ENST00000399423.8:c.843G>C	ENSP00000382350.4:p.Glu281Asp
ENST00000558476.5:c.405G>C	ENSP00000452724.1:p.Glu135Asp
ENST00000558566.1:c.*215G>C	ENSP00000453025.1:n.*215G>C
ENST00000559019.1:c.*215G>C	ENSP00000453675.1:n.*215G>C
ENST00000559549.1:n.569G>C
ENST00000559969.5:c.757+42G>C
ENST00000626689.2:c.*215G>C	ENSP00000486681.1:n.*215G>C
NM_001099274.1:c.843G>C	NP_001092744.1:p.Glu281Asp
NM_012461.2:c.843G>C	NP_036593.2:p.Glu281Asp
XM_005267528.2:c.843G>C	XP_005267585.1:p.Glu281Asp
XM_005267529.2:c.738G>C	XP_005267586.1:p.Glu246Asp
NM_001099274.2:c.843G>C	NP_001092744.1:p.Glu281Asp
NM_001363668.1:c.738G>C	NP_001350597.1:p.Glu246Asp
NM_012461.3:c.843G>C	NP_036593.2:p.Glu281Asp
XM_011536642.2:c.*223G>C	XP_011534944.1:n.*223G>C
XM_017021216.2:c.201G>C	XP_016876705.1:p.Glu67Asp
XM_017021217.1:c.201G>C	XP_016876706.1:p.Glu67Asp
NM_001099274.3:c.843G>C MANE Select	NP_001092744.1:p.Glu281Asp
NM_001363668.2:c.738G>C	NP_001350597.1:p.Glu246Asp