Canonical Allele Identifier: CA4386155

Gene: TFR2

Linked Data

• ClinVar Variation Id: 2037853
• ClinVar RCV Id: RCV002890273 ; RCV002890274
• dbSNP Id: rs146487447
• ExAC: 7:100218566 G / A
• gnomAD v2: 7-100218566-G-A
• gnomAD v3: 7-100620943-G-A
• gnomAD v4: 7-100620943-G-A
• MyVariant Identifiers: chr7:g.100218566G>A (hg19) ; chr7:g.100620943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620943G>A , CM000669.2:g.100620943G>A	GRCh38
NC_000007.13:g.100218566G>A , CM000669.1:g.100218566G>A	GRCh37
NC_000007.12:g.100056502G>A	NCBI36
NG_007989.1:g.25608C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000223051.8:c.2320C>T MANE Select	ENSP00000223051.3:p.Arg774Cys
ENST00000223051.7:c.2320C>T	ENSP00000223051.3:p.Arg774Cys
ENST00000431692.5:c.*995C>T	ENSP00000413905.1:n.*995C>T
ENST00000462090.5:n.1356C>T
ENST00000462107.1:c.2320C>T	ENSP00000420525.1:p.Arg774Cys
ENST00000465294.5:n.2240C>T
ENST00000476304.5:n.1941C>T
ENST00000490084.5:c.1673C>T
NM_001206855.1:c.1807C>T	NP_001193784.1:p.Arg603Cys
NM_003227.3:c.2320C>T	NP_003218.2:p.Arg774Cys
XM_005250553.3:c.2320C>T	XP_005250610.1:p.Arg774Cys
NM_001206855.2:c.1807C>T	NP_001193784.1:p.Arg603Cys
XM_005250553.4:c.2320C>T	XP_005250610.1:p.Arg774Cys
XM_017012573.1:c.2320C>T	XP_016868062.1:p.Arg774Cys
NM_003227.4:c.2320C>T MANE Select	NP_003218.2:p.Arg774Cys
NM_001206855.3:c.1807C>T	NP_001193784.1:p.Arg603Cys