Canonical Allele Identifier: CA389226625

Gene: TINF2

Linked Data

• gnomAD v4: 14-24240722-A-G
• MyVariant Identifiers: chr14:g.24709928A>G (hg19) ; chr14:g.24240722A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240722A>G , CM000676.2:g.24240722A>G	GRCh38
NC_000014.8:g.24709928A>G , CM000676.1:g.24709928A>G	GRCh37
NC_000014.7:g.23779768A>G	NCBI36
NG_016650.1:g.6953T>C
NG_054634.1:g.13306A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1061T>C
ENST00000557921.3:c.650T>C	ENSP00000453157.3:p.Leu217Pro
ENST00000699682.1:n.1148T>C
ENST00000699683.1:n.1198T>C
ENST00000699684.1:c.*351T>C	ENSP00000514523.1:n.*351T>C
ENST00000699685.1:n.962T>C
ENST00000699686.1:c.551T>C	ENSP00000514524.1:p.Leu184Pro
ENST00000699687.1:c.653T>C	ENSP00000514525.1:p.Leu218Pro
ENST00000699688.1:n.958T>C
ENST00000699689.1:n.1314T>C
ENST00000699690.1:n.1511T>C
ENST00000699691.1:n.1655T>C
ENST00000699693.1:n.1175T>C
ENST00000699694.1:n.1417T>C
ENST00000699695.1:c.*130T>C	ENSP00000514526.1:n.*130T>C
ENST00000699696.1:n.1061T>C
ENST00000699697.1:c.758T>C	ENSP00000514527.1:p.Leu253Pro
ENST00000699698.1:n.679T>C
ENST00000699699.1:n.1082T>C
ENST00000699700.1:n.1205T>C
ENST00000699701.1:c.*138T>C	ENSP00000514528.1:n.*138T>C
ENST00000267415.12:c.758T>C MANE Select	ENSP00000267415.7:p.Leu253Pro
ENST00000557921.2:c.650T>C	ENSP00000453157.2:p.Leu217Pro
ENST00000646753.1:c.653T>C	ENSP00000494065.1:p.Leu218Pro
ENST00000267415.11:c.758T>C	ENSP00000267415.7:p.Leu253Pro
ENST00000399423.8:c.758T>C	ENSP00000382350.4:p.Leu253Pro
ENST00000558476.5:c.320T>C	ENSP00000452724.1:p.Leu107Pro
ENST00000558566.1:c.*130T>C	ENSP00000453025.1:n.*130T>C
ENST00000559019.1:c.*130T>C	ENSP00000453675.1:n.*130T>C
ENST00000559549.1:n.484T>C
ENST00000559969.5:c.714T>C
ENST00000626689.2:c.*130T>C	ENSP00000486681.1:n.*130T>C
NM_001099274.1:c.758T>C	NP_001092744.1:p.Leu253Pro
NM_012461.2:c.758T>C	NP_036593.2:p.Leu253Pro
XM_005267528.2:c.758T>C	XP_005267585.1:p.Leu253Pro
XM_005267529.2:c.653T>C	XP_005267586.1:p.Leu218Pro
NM_001099274.2:c.758T>C	NP_001092744.1:p.Leu253Pro
NM_001363668.1:c.653T>C	NP_001350597.1:p.Leu218Pro
NM_012461.3:c.758T>C	NP_036593.2:p.Leu253Pro
XM_011536642.2:c.*138T>C	XP_011534944.1:n.*138T>C
XM_017021216.2:c.116T>C	XP_016876705.1:p.Leu39Pro
XM_017021217.1:c.116T>C	XP_016876706.1:p.Leu39Pro
NM_001099274.3:c.758T>C MANE Select	NP_001092744.1:p.Leu253Pro
NM_001363668.2:c.653T>C	NP_001350597.1:p.Leu218Pro