Canonical Allele Identifier: CA4386755

Gene: TFR2

Linked Data

• dbSNP Id: rs765220809
• ExAC: 7:100230911 G / GGAC
• gnomAD v2: 7-100230911-G-GGAC
• gnomAD v4: 7-100633288-G-GGAC
• MyVariant Identifiers: chr7:g.100230911_100230912insGAC (hg19) ; chr7:g.100633288_100633289insGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100633288_100633289insGAC , CM000669.2:g.100633288_100633289insGAC	GRCh38
NC_000007.13:g.100230911_100230912insGAC , CM000669.1:g.100230911_100230912insGAC	GRCh37
NC_000007.12:g.100068847_100068848insGAC	NCBI36
NG_007989.1:g.13262_13263insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.666_667insGTC MANE Select	ENSP00000223051.3:p.Glu222_Gln223insVal
ENST00000223051.7:c.666_667insGTC	ENSP00000223051.3:p.Glu222_Gln223insVal
ENST00000431692.5:c.666_667insGTC	ENSP00000413905.1:p.Glu222_Gln223insVal
ENST00000462107.1:c.666_667insGTC	ENSP00000420525.1:p.Glu222_Gln223insVal
ENST00000465294.5:n.671_672insGTC
ENST00000473374.5:n.116_117insGTC
ENST00000473571.1:n.120_121insGTC
ENST00000475011.1:n.195_196insGTC
ENST00000476304.5:n.287_288insGTC
NM_001206855.1:c.153_154insGTC	NP_001193784.1:p.Glu51_Gln52insVal
NM_003227.3:c.666_667insGTC	NP_003218.2:p.Glu222_Gln223insVal
XM_005250553.3:c.666_667insGTC	XP_005250610.1:p.Glu222_Gln223insVal
XM_005250554.3:c.666_667insGTC	XP_005250611.1:p.Glu222_Gln223insVal
NM_001206855.2:c.153_154insGTC	NP_001193784.1:p.Glu51_Gln52insVal
XM_005250553.4:c.666_667insGTC	XP_005250610.1:p.Glu222_Gln223insVal
XM_017012573.1:c.666_667insGTC	XP_016868062.1:p.Glu222_Gln223insVal
NM_003227.4:c.666_667insGTC MANE Select	NP_003218.2:p.Glu222_Gln223insVal
NM_001206855.3:c.153_154insGTC	NP_001193784.1:p.Glu51_Gln52insVal