Canonical Allele Identifier: CA645542121

Gene: TFR2

Linked Data

• COSMIC: COSM1699039

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627412_100627413delinsAA , CM000669.2:g.100627412_100627413delinsAA	GRCh38
NC_000007.13:g.100225035_100225036delinsAA , CM000669.1:g.100225035_100225036delinsAA	GRCh37
NC_000007.12:g.100062971_100062972delinsAA	NCBI36
NG_007989.1:g.19138_19139delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.1846_1847delinsTT MANE Select	ENSP00000223051.3:p.Pro616Phe
ENST00000223051.7:c.1846_1847delinsTT	ENSP00000223051.3:p.Pro616Phe
ENST00000431692.5:c.*521_*522delinsTT	ENSP00000413905.1:n.*521_*522delinsTT
ENST00000461176.1:n.192_193delinsTT
ENST00000462090.5:n.882_883delinsTT
ENST00000462107.1:c.1846_1847delinsTT	ENSP00000420525.1:p.Pro616Phe
ENST00000465294.5:n.1766_1767delinsTT
ENST00000476304.5:n.1467_1468delinsTT
ENST00000490084.5:c.1199_1200delinsTT
NM_001206855.1:c.1333_1334delinsTT	NP_001193784.1:p.Pro445Phe
NM_003227.3:c.1846_1847delinsTT	NP_003218.2:p.Pro616Phe
XM_005250553.3:c.1846_1847delinsTT	XP_005250610.1:p.Pro616Phe
XM_005250554.3:c.1846_1847delinsTT	XP_005250611.1:p.Pro616Phe
XR_927814.1:n.434-3744_434-3743delinsAA
NM_001206855.2:c.1333_1334delinsTT	NP_001193784.1:p.Pro445Phe
XM_005250553.4:c.1846_1847delinsTT	XP_005250610.1:p.Pro616Phe
XM_017012573.1:c.1846_1847delinsTT	XP_016868062.1:p.Pro616Phe
NM_003227.4:c.1846_1847delinsTT MANE Select	NP_003218.2:p.Pro616Phe
NM_001206855.3:c.1333_1334delinsTT	NP_001193784.1:p.Pro445Phe