Canonical Allele Identifier: CA389225658

Gene: TINF2

Linked Data

• dbSNP Id: rs1335571035
• gnomAD v2: 14-24709853-C-A
• gnomAD v3: 14-24240647-C-A
• gnomAD v4: 14-24240647-C-A
• MyVariant Identifiers: chr14:g.24709853C>A (hg19) ; chr14:g.24240647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240647C>A , CM000676.2:g.24240647C>A	GRCh38
NC_000014.8:g.24709853C>A , CM000676.1:g.24709853C>A	GRCh37
NC_000014.7:g.23779693C>A	NCBI36
NG_016650.1:g.7028G>T
NG_054634.1:g.13231C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1136G>T
ENST00000557921.3:c.725G>T	ENSP00000453157.3:p.Gly242Val
ENST00000699682.1:n.1223G>T
ENST00000699683.1:n.1273G>T
ENST00000699684.1:c.*426G>T	ENSP00000514523.1:n.*426G>T
ENST00000699685.1:n.1037G>T
ENST00000699686.1:c.626G>T	ENSP00000514524.1:p.Gly209Val
ENST00000699687.1:c.728G>T	ENSP00000514525.1:p.Gly243Val
ENST00000699688.1:n.1033G>T
ENST00000699689.1:n.1389G>T
ENST00000699690.1:n.1586G>T
ENST00000699691.1:n.1730G>T
ENST00000699693.1:n.1250G>T
ENST00000699694.1:n.1492G>T
ENST00000699695.1:c.*205G>T	ENSP00000514526.1:n.*205G>T
ENST00000699696.1:n.1136G>T
ENST00000699697.1:c.833G>T	ENSP00000514527.1:p.Gly278Val
ENST00000699698.1:n.754G>T
ENST00000699699.1:n.1157G>T
ENST00000699700.1:n.1280G>T
ENST00000699701.1:c.*213G>T	ENSP00000514528.1:n.*213G>T
ENST00000267415.12:c.833G>T MANE Select	ENSP00000267415.7:p.Gly278Val
ENST00000557921.2:c.725G>T	ENSP00000453157.2:p.Gly242Val
ENST00000646753.1:c.728G>T	ENSP00000494065.1:p.Gly243Val
ENST00000267415.11:c.833G>T	ENSP00000267415.7:p.Gly278Val
ENST00000399423.8:c.833G>T	ENSP00000382350.4:p.Gly278Val
ENST00000558476.5:c.395G>T	ENSP00000452724.1:p.Gly132Val
ENST00000558566.1:c.*205G>T	ENSP00000453025.1:n.*205G>T
ENST00000559019.1:c.*205G>T	ENSP00000453675.1:n.*205G>T
ENST00000559549.1:n.559G>T
ENST00000559969.5:c.757+32G>T
ENST00000626689.2:c.*205G>T	ENSP00000486681.1:n.*205G>T
NM_001099274.1:c.833G>T	NP_001092744.1:p.Gly278Val
NM_012461.2:c.833G>T	NP_036593.2:p.Gly278Val
XM_005267528.2:c.833G>T	XP_005267585.1:p.Gly278Val
XM_005267529.2:c.728G>T	XP_005267586.1:p.Gly243Val
NM_001099274.2:c.833G>T	NP_001092744.1:p.Gly278Val
NM_001363668.1:c.728G>T	NP_001350597.1:p.Gly243Val
NM_012461.3:c.833G>T	NP_036593.2:p.Gly278Val
XM_011536642.2:c.*213G>T	XP_011534944.1:n.*213G>T
XM_017021216.2:c.191G>T	XP_016876705.1:p.Gly64Val
XM_017021217.1:c.191G>T	XP_016876706.1:p.Gly64Val
NM_001099274.3:c.833G>T MANE Select	NP_001092744.1:p.Gly278Val
NM_001363668.2:c.728G>T	NP_001350597.1:p.Gly243Val