Canonical Allele Identifier: CA389224023

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709705C>A (hg19) ; chr14:g.24240499C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240499C>A , CM000676.2:g.24240499C>A	GRCh38
NC_000014.8:g.24709705C>A , CM000676.1:g.24709705C>A	GRCh37
NC_000014.7:g.23779545C>A	NCBI36
NG_016650.1:g.7176G>T
NG_054634.1:g.13083C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557915.2:n.1284G>T
ENST00000557921.3:c.873G>T	ENSP00000453157.3:p.Lys291Asn
ENST00000699682.1:n.1371G>T
ENST00000699683.1:n.1421G>T
ENST00000699684.1:c.*574G>T	ENSP00000514523.1:n.*574G>T
ENST00000699685.1:n.1185G>T
ENST00000699686.1:c.774G>T	ENSP00000514524.1:p.Lys258Asn
ENST00000699687.1:c.876G>T	ENSP00000514525.1:p.Lys292Asn
ENST00000699688.1:n.1181G>T
ENST00000699689.1:n.1537G>T
ENST00000699690.1:n.1734G>T
ENST00000699691.1:n.1878G>T
ENST00000699693.1:n.1398G>T
ENST00000699694.1:n.1640G>T
ENST00000699695.1:c.*353G>T	ENSP00000514526.1:n.*353G>T
ENST00000699696.1:n.1284G>T
ENST00000699697.1:c.981G>T	ENSP00000514527.1:p.Lys327Asn
ENST00000699698.1:n.902G>T
ENST00000699699.1:n.1305G>T
ENST00000699700.1:n.1428G>T
ENST00000699701.1:c.*361G>T	ENSP00000514528.1:n.*361G>T
ENST00000267415.12:c.981G>T MANE Select	ENSP00000267415.7:p.Lys327Asn
ENST00000646753.1:c.876G>T	ENSP00000494065.1:p.Lys292Asn
ENST00000267415.11:c.981G>T	ENSP00000267415.7:p.Lys327Asn
ENST00000399423.8:c.981G>T	ENSP00000382350.4:p.Lys327Asn
ENST00000557915.1:n.100G>T
ENST00000558566.1:c.*353G>T	ENSP00000453025.1:n.*353G>T
ENST00000559019.1:c.*353G>T	ENSP00000453675.1:n.*353G>T
ENST00000559969.5:c.758-19G>T
ENST00000626689.2:c.*353G>T	ENSP00000486681.1:n.*353G>T
NM_001099274.1:c.981G>T	NP_001092744.1:p.Lys327Asn
NM_012461.2:c.981G>T	NP_036593.2:p.Lys327Asn
XM_005267528.2:c.981G>T	XP_005267585.1:p.Lys327Asn
XM_005267529.2:c.876G>T	XP_005267586.1:p.Lys292Asn
NM_001099274.2:c.981G>T	NP_001092744.1:p.Lys327Asn
NM_001363668.1:c.876G>T	NP_001350597.1:p.Lys292Asn
NM_012461.3:c.981G>T	NP_036593.2:p.Lys327Asn
XM_011536642.2:c.*361G>T	XP_011534944.1:n.*361G>T
XM_017021216.2:c.339G>T	XP_016876705.1:p.Lys113Asn
XM_017021217.1:c.339G>T	XP_016876706.1:p.Lys113Asn
NM_001099274.3:c.981G>T MANE Select	NP_001092744.1:p.Lys327Asn
NM_001363668.2:c.876G>T	NP_001350597.1:p.Lys292Asn