Canonical Allele Identifier: CA389225577

Gene: TINF2

Linked Data

• MyVariant Identifiers: chr14:g.24709846C>A (hg19) ; chr14:g.24240640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240640C>A , CM000676.2:g.24240640C>A	GRCh38
NC_000014.8:g.24709846C>A , CM000676.1:g.24709846C>A	GRCh37
NC_000014.7:g.23779686C>A	NCBI36
NG_016650.1:g.7035G>T
NG_054634.1:g.13224C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1143G>T
ENST00000557921.3:c.732G>T	ENSP00000453157.3:p.Lys244Asn
ENST00000699682.1:n.1230G>T
ENST00000699683.1:n.1280G>T
ENST00000699684.1:c.*433G>T	ENSP00000514523.1:n.*433G>T
ENST00000699685.1:n.1044G>T
ENST00000699686.1:c.633G>T	ENSP00000514524.1:p.Lys211Asn
ENST00000699687.1:c.735G>T	ENSP00000514525.1:p.Lys245Asn
ENST00000699688.1:n.1040G>T
ENST00000699689.1:n.1396G>T
ENST00000699690.1:n.1593G>T
ENST00000699691.1:n.1737G>T
ENST00000699693.1:n.1257G>T
ENST00000699694.1:n.1499G>T
ENST00000699695.1:c.*212G>T	ENSP00000514526.1:n.*212G>T
ENST00000699696.1:n.1143G>T
ENST00000699697.1:c.840G>T	ENSP00000514527.1:p.Lys280Asn
ENST00000699698.1:n.761G>T
ENST00000699699.1:n.1164G>T
ENST00000699700.1:n.1287G>T
ENST00000699701.1:c.*220G>T	ENSP00000514528.1:n.*220G>T
ENST00000267415.12:c.840G>T MANE Select	ENSP00000267415.7:p.Lys280Asn
ENST00000557921.2:c.732G>T	ENSP00000453157.2:p.Lys244Asn
ENST00000646753.1:c.735G>T	ENSP00000494065.1:p.Lys245Asn
ENST00000267415.11:c.840G>T	ENSP00000267415.7:p.Lys280Asn
ENST00000399423.8:c.840G>T	ENSP00000382350.4:p.Lys280Asn
ENST00000558476.5:c.402G>T	ENSP00000452724.1:p.Lys134Asn
ENST00000558566.1:c.*212G>T	ENSP00000453025.1:n.*212G>T
ENST00000559019.1:c.*212G>T	ENSP00000453675.1:n.*212G>T
ENST00000559549.1:n.566G>T
ENST00000559969.5:c.757+39G>T
ENST00000626689.2:c.*212G>T	ENSP00000486681.1:n.*212G>T
NM_001099274.1:c.840G>T	NP_001092744.1:p.Lys280Asn
NM_012461.2:c.840G>T	NP_036593.2:p.Lys280Asn
XM_005267528.2:c.840G>T	XP_005267585.1:p.Lys280Asn
XM_005267529.2:c.735G>T	XP_005267586.1:p.Lys245Asn
NM_001099274.2:c.840G>T	NP_001092744.1:p.Lys280Asn
NM_001363668.1:c.735G>T	NP_001350597.1:p.Lys245Asn
NM_012461.3:c.840G>T	NP_036593.2:p.Lys280Asn
XM_011536642.2:c.*220G>T	XP_011534944.1:n.*220G>T
XM_017021216.2:c.198G>T	XP_016876705.1:p.Lys66Asn
XM_017021217.1:c.198G>T	XP_016876706.1:p.Lys66Asn
NM_001099274.3:c.840G>T MANE Select	NP_001092744.1:p.Lys280Asn
NM_001363668.2:c.735G>T	NP_001350597.1:p.Lys245Asn