Canonical Allele Identifier: CA2695199595

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2679156
• ClinVar RCV Id: RCV003474071

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620939_100620945delinsCGTTTCCA , CM000669.2:g.100620939_100620945delinsCGTTTCCA	GRCh38
NC_000007.13:g.100218562_100218568delinsCGTTTCCA , CM000669.1:g.100218562_100218568delinsCGTTTCCA	GRCh37
NC_000007.12:g.100056498_100056504delinsCGTTTCCA	NCBI36
NG_007989.1:g.25606_25612delinsTGGAAACG

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2318_2324delinsTGGAAACG MANE Select	ENSP00000223051.3:p.Arg773LeufsTer19
ENST00000223051.7:c.2318_2324delinsTGGAAACG	ENSP00000223051.3:p.Arg773LeufsTer19
ENST00000431692.5:c.*993_*999delinsTGGAAACG	ENSP00000413905.1:n.*993_*999delinsTGGAAACG
ENST00000462090.5:n.1354_1360delinsTGGAAACG
ENST00000462107.1:c.2318_2324delinsTGGAAACG	ENSP00000420525.1:p.Arg773LeufsTer19
ENST00000465294.5:n.2238_2244delinsTGGAAACG
ENST00000476304.5:n.1939_1945delinsTGGAAACG
ENST00000490084.5:c.1671_1677delinsTGGAAACG
NM_001206855.1:c.1805_1811delinsTGGAAACG	NP_001193784.1:p.Arg602LeufsTer19
NM_003227.3:c.2318_2324delinsTGGAAACG	NP_003218.2:p.Arg773LeufsTer19
XM_005250553.3:c.2318_2324delinsTGGAAACG	XP_005250610.1:p.Arg773LeufsTer19
NM_001206855.2:c.1805_1811delinsTGGAAACG	NP_001193784.1:p.Arg602LeufsTer19
XM_005250553.4:c.2318_2324delinsTGGAAACG	XP_005250610.1:p.Arg773LeufsTer19
XM_017012573.1:c.2318_2324delinsTGGAAACG	XP_016868062.1:p.Arg773LeufsTer19
NM_003227.4:c.2318_2324delinsTGGAAACG MANE Select	NP_003218.2:p.Arg773LeufsTer19
NM_001206855.3:c.1805_1811delinsTGGAAACG	NP_001193784.1:p.Arg602LeufsTer19