Canonical Allele Identifier: CA2684109399

Gene: TFR2

Linked Data

• gnomAD v4: 7-100633157-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633157_100633158insA , CM000669.2:g.100633157_100633158insA	GRCh38
NC_000007.13:g.100230780_100230781insA , CM000669.1:g.100230780_100230781insA	GRCh37
NC_000007.12:g.100068716_100068717insA	NCBI36
NG_007989.1:g.13393_13394insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.727-35_727-34insT MANE Select	ENSP00000223051.3:n.727-35_727-34insT
ENST00000223051.7:c.727-35_727-34insT	ENSP00000223051.3:n.727-35_727-34insT
ENST00000431692.5:c.727-35_727-34insT	ENSP00000413905.1:n.727-35_727-34insT
ENST00000462107.1:c.727-35_727-34insT	ENSP00000420525.1:n.727-35_727-34insT
ENST00000465294.5:n.732-35_732-34insT
ENST00000473374.5:n.177-35_177-34insT
ENST00000473571.1:n.181-35_181-34insT
ENST00000475011.1:n.256-35_256-34insT
ENST00000476304.5:n.348-35_348-34insT
NM_001206855.1:c.214-35_214-34insT	NP_001193784.1:n.214-35_214-34insT
NM_003227.3:c.727-35_727-34insT	NP_003218.2:n.727-35_727-34insT
XM_005250553.3:c.727-35_727-34insT	XP_005250610.1:n.727-35_727-34insT
XM_005250554.3:c.727-35_727-34insT	XP_005250611.1:n.727-35_727-34insT
NM_001206855.2:c.214-35_214-34insT	NP_001193784.1:n.214-35_214-34insT
XM_005250553.4:c.727-35_727-34insT	XP_005250610.1:n.727-35_727-34insT
XM_017012573.1:c.727-35_727-34insT	XP_016868062.1:n.727-35_727-34insT
NM_003227.4:c.727-35_727-34insT MANE Select	NP_003218.2:n.727-35_727-34insT
NM_001206855.3:c.214-35_214-34insT	NP_001193784.1:n.214-35_214-34insT