Canonical Allele Identifier: CA389229662

Gene: TINF2

Linked Data

• dbSNP Id: rs1326035157
• gnomAD v3: 14-24240837-T-G
• gnomAD v4: 14-24240837-T-G
• MyVariant Identifiers: chr14:g.24710043T>G (hg19) ; chr14:g.24240837T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240837T>G , CM000676.2:g.24240837T>G	GRCh38
NC_000014.8:g.24710043T>G , CM000676.1:g.24710043T>G	GRCh37
NC_000014.7:g.23779883T>G	NCBI36
NG_016650.1:g.6838A>C
NG_054634.1:g.13421T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.946A>C
ENST00000557921.3:c.535A>C	ENSP00000453157.3:p.Met179Leu
ENST00000699682.1:n.1033A>C
ENST00000699683.1:n.1083A>C
ENST00000699684.1:c.*236A>C	ENSP00000514523.1:n.*236A>C
ENST00000699685.1:n.847A>C
ENST00000699686.1:c.436A>C	ENSP00000514524.1:p.Met146Leu
ENST00000699687.1:c.538A>C	ENSP00000514525.1:p.Met180Leu
ENST00000699688.1:n.843A>C
ENST00000699689.1:n.1199A>C
ENST00000699690.1:n.1396A>C
ENST00000699691.1:n.1540A>C
ENST00000699693.1:n.1060A>C
ENST00000699694.1:n.1302A>C
ENST00000699695.1:c.*15A>C	ENSP00000514526.1:n.*15A>C
ENST00000699696.1:n.946A>C
ENST00000699697.1:c.643A>C	ENSP00000514527.1:p.Met215Leu
ENST00000699698.1:n.564A>C
ENST00000699699.1:n.967A>C
ENST00000699700.1:n.1090A>C
ENST00000699701.1:c.*23A>C	ENSP00000514528.1:n.*23A>C
ENST00000267415.12:c.643A>C MANE Select	ENSP00000267415.7:p.Met215Leu
ENST00000557921.2:c.535A>C	ENSP00000453157.2:p.Met179Leu
ENST00000646753.1:c.538A>C	ENSP00000494065.1:p.Met180Leu
ENST00000267415.11:c.643A>C	ENSP00000267415.7:p.Met215Leu
ENST00000399423.8:c.643A>C	ENSP00000382350.4:p.Met215Leu
ENST00000558476.5:c.205A>C	ENSP00000452724.1:p.Met69Leu
ENST00000558566.1:c.*15A>C	ENSP00000453025.1:n.*15A>C
ENST00000559019.1:c.*15A>C	ENSP00000453675.1:n.*15A>C
ENST00000559549.1:n.369A>C
ENST00000559969.5:c.599A>C
ENST00000626689.2:c.*15A>C	ENSP00000486681.1:n.*15A>C
NM_001099274.1:c.643A>C	NP_001092744.1:p.Met215Leu
NM_012461.2:c.643A>C	NP_036593.2:p.Met215Leu
XM_005267528.2:c.643A>C	XP_005267585.1:p.Met215Leu
XM_005267529.2:c.538A>C	XP_005267586.1:p.Met180Leu
XM_011536642.1:c.*23A>C	XP_011534944.1:n.*23A>C
NM_001099274.2:c.643A>C	NP_001092744.1:p.Met215Leu
NM_001363668.1:c.538A>C	NP_001350597.1:p.Met180Leu
NM_012461.3:c.643A>C	NP_036593.2:p.Met215Leu
XM_011536642.2:c.*23A>C	XP_011534944.1:n.*23A>C
XM_017021216.2:c.1A>C	XP_016876705.1:p.Met1Leu
XM_017021217.1:c.1A>C	XP_016876706.1:p.Met1Leu
NM_001099274.3:c.643A>C MANE Select	NP_001092744.1:p.Met215Leu
NM_001363668.2:c.538A>C	NP_001350597.1:p.Met180Leu