Canonical Allele Identifier: CA456748954

Gene: TFR2

Linked Data

• ClinVar Variation Id: 1157853
• ClinVar RCV Id: RCV001501070
• dbSNP Id: rs1803095211
• MyVariant Identifiers: chr7:g.100218693G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100621070G>A , CM000669.2:g.100621070G>A	GRCh38
NC_000007.13:g.100218693G>A , CM000669.1:g.100218693G>A	GRCh37
NC_000007.12:g.100056629G>A	NCBI36
NG_007989.1:g.25481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2193C>T MANE Select	ENSP00000223051.3:p.His731=
ENST00000223051.7:c.2193C>T	ENSP00000223051.3:p.His731=
ENST00000431692.5:c.*868C>T	ENSP00000413905.1:n.*868C>T
ENST00000462090.5:n.1229C>T
ENST00000462107.1:c.2193C>T	ENSP00000420525.1:p.His731=
ENST00000465294.5:n.2113C>T
ENST00000476304.5:n.1814C>T
ENST00000490084.5:c.1546C>T
NM_001206855.1:c.1680C>T	NP_001193784.1:p.His560=
NM_003227.3:c.2193C>T	NP_003218.2:p.His731=
XM_005250553.3:c.2193C>T	XP_005250610.1:p.His731=
NM_001206855.2:c.1680C>T	NP_001193784.1:p.His560=
XM_005250553.4:c.2193C>T	XP_005250610.1:p.His731=
XM_017012573.1:c.2193C>T	XP_016868062.1:p.His731=
NM_003227.4:c.2193C>T MANE Select	NP_003218.2:p.His731=
NM_001206855.3:c.1680C>T	NP_001193784.1:p.His560=