Canonical Allele Identifier: CA389227002

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709967A>G (hg19) ; chr14:g.24240761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240761A>G , CM000676.2:g.24240761A>G	GRCh38
NC_000014.8:g.24709967A>G , CM000676.1:g.24709967A>G	GRCh37
NC_000014.7:g.23779807A>G	NCBI36
NG_016650.1:g.6914T>C
NG_054634.1:g.13345A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1022T>C
ENST00000557921.3:c.611T>C	ENSP00000453157.3:p.Leu204Pro
ENST00000699682.1:n.1109T>C
ENST00000699683.1:n.1159T>C
ENST00000699684.1:c.*312T>C	ENSP00000514523.1:n.*312T>C
ENST00000699685.1:n.923T>C
ENST00000699686.1:c.512T>C	ENSP00000514524.1:p.Leu171Pro
ENST00000699687.1:c.614T>C	ENSP00000514525.1:p.Leu205Pro
ENST00000699688.1:n.919T>C
ENST00000699689.1:n.1275T>C
ENST00000699690.1:n.1472T>C
ENST00000699691.1:n.1616T>C
ENST00000699693.1:n.1136T>C
ENST00000699694.1:n.1378T>C
ENST00000699695.1:c.*91T>C	ENSP00000514526.1:n.*91T>C
ENST00000699696.1:n.1022T>C
ENST00000699697.1:c.719T>C	ENSP00000514527.1:p.Leu240Pro
ENST00000699698.1:n.640T>C
ENST00000699699.1:n.1043T>C
ENST00000699700.1:n.1166T>C
ENST00000699701.1:c.*99T>C	ENSP00000514528.1:n.*99T>C
ENST00000267415.12:c.719T>C MANE Select	ENSP00000267415.7:p.Leu240Pro
ENST00000557921.2:c.611T>C	ENSP00000453157.2:p.Leu204Pro
ENST00000646753.1:c.614T>C	ENSP00000494065.1:p.Leu205Pro
ENST00000267415.11:c.719T>C	ENSP00000267415.7:p.Leu240Pro
ENST00000399423.8:c.719T>C	ENSP00000382350.4:p.Leu240Pro
ENST00000558476.5:c.281T>C	ENSP00000452724.1:p.Leu94Pro
ENST00000558566.1:c.*91T>C	ENSP00000453025.1:n.*91T>C
ENST00000559019.1:c.*91T>C	ENSP00000453675.1:n.*91T>C
ENST00000559549.1:n.445T>C
ENST00000559969.5:c.675T>C
ENST00000626689.2:c.*91T>C	ENSP00000486681.1:n.*91T>C
NM_001099274.1:c.719T>C	NP_001092744.1:p.Leu240Pro
NM_012461.2:c.719T>C	NP_036593.2:p.Leu240Pro
XM_005267528.2:c.719T>C	XP_005267585.1:p.Leu240Pro
XM_005267529.2:c.614T>C	XP_005267586.1:p.Leu205Pro
NM_001099274.2:c.719T>C	NP_001092744.1:p.Leu240Pro
NM_001363668.1:c.614T>C	NP_001350597.1:p.Leu205Pro
NM_012461.3:c.719T>C	NP_036593.2:p.Leu240Pro
XM_011536642.2:c.*99T>C	XP_011534944.1:n.*99T>C
XM_017021216.2:c.77T>C	XP_016876705.1:p.Leu26Pro
XM_017021217.1:c.77T>C	XP_016876706.1:p.Leu26Pro
NM_001099274.3:c.719T>C MANE Select	NP_001092744.1:p.Leu240Pro
NM_001363668.2:c.614T>C	NP_001350597.1:p.Leu205Pro