Canonical Allele Identifier: CA389223792

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709683G>C (hg19) ; chr14:g.24240477G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240477G>C , CM000676.2:g.24240477G>C	GRCh38
NC_000014.8:g.24709683G>C , CM000676.1:g.24709683G>C	GRCh37
NC_000014.7:g.23779523G>C	NCBI36
NG_016650.1:g.7198C>G
NG_054634.1:g.13061G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1306C>G
ENST00000557921.3:c.895C>G	ENSP00000453157.3:p.Leu299Val
ENST00000699682.1:n.1393C>G
ENST00000699683.1:n.1443C>G
ENST00000699684.1:c.*596C>G	ENSP00000514523.1:n.*596C>G
ENST00000699685.1:n.1207C>G
ENST00000699686.1:c.796C>G	ENSP00000514524.1:p.Leu266Val
ENST00000699687.1:c.898C>G	ENSP00000514525.1:p.Leu300Val
ENST00000699688.1:n.1203C>G
ENST00000699689.1:n.1559C>G
ENST00000699690.1:n.1756C>G
ENST00000699691.1:n.1900C>G
ENST00000699693.1:n.1420C>G
ENST00000699694.1:n.1662C>G
ENST00000699695.1:c.*375C>G	ENSP00000514526.1:n.*375C>G
ENST00000699696.1:n.1306C>G
ENST00000699697.1:c.1003C>G	ENSP00000514527.1:p.Leu335Val
ENST00000699698.1:n.924C>G
ENST00000699699.1:n.1327C>G
ENST00000699700.1:n.1450C>G
ENST00000699701.1:c.*383C>G	ENSP00000514528.1:n.*383C>G
ENST00000267415.12:c.1003C>G MANE Select	ENSP00000267415.7:p.Leu335Val
ENST00000646753.1:c.898C>G	ENSP00000494065.1:p.Leu300Val
ENST00000267415.11:c.1003C>G	ENSP00000267415.7:p.Leu335Val
ENST00000399423.8:c.1003C>G	ENSP00000382350.4:p.Leu335Val
ENST00000557915.1:n.122C>G
ENST00000558566.1:c.*375C>G	ENSP00000453025.1:n.*375C>G
ENST00000559969.5:c.761C>G
ENST00000626689.2:c.*375C>G	ENSP00000486681.1:n.*375C>G
NM_001099274.1:c.1003C>G	NP_001092744.1:p.Leu335Val
NM_012461.2:c.1003C>G	NP_036593.2:p.Leu335Val
XM_005267528.2:c.1003C>G	XP_005267585.1:p.Leu335Val
XM_005267529.2:c.898C>G	XP_005267586.1:p.Leu300Val
NM_001099274.2:c.1003C>G	NP_001092744.1:p.Leu335Val
NM_001363668.1:c.898C>G	NP_001350597.1:p.Leu300Val
NM_012461.3:c.1003C>G	NP_036593.2:p.Leu335Val
XM_011536642.2:c.*383C>G	XP_011534944.1:n.*383C>G
XM_017021216.2:c.361C>G	XP_016876705.1:p.Leu121Val
XM_017021217.1:c.361C>G	XP_016876706.1:p.Leu121Val
NM_001099274.3:c.1003C>G MANE Select	NP_001092744.1:p.Leu335Val
NM_001363668.2:c.898C>G	NP_001350597.1:p.Leu300Val