Canonical Allele Identifier: CA368522875

Gene: TFR2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626839T>A , CM000669.2:g.100626839T>A	GRCh38
NC_000007.13:g.100224462T>A , CM000669.1:g.100224462T>A	GRCh37
NC_000007.12:g.100062398T>A	NCBI36
NG_007989.1:g.19712A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.2060A>T MANE Select	ENSP00000223051.3:p.Lys687Met
ENST00000223051.7:c.2060A>T	ENSP00000223051.3:p.Lys687Met
ENST00000431692.5:c.*735A>T	ENSP00000413905.1:n.*735A>T
ENST00000461176.1:n.406A>T
ENST00000462090.5:n.1096A>T
ENST00000462107.1:c.2060A>T	ENSP00000420525.1:p.Lys687Met
ENST00000465294.5:n.1980A>T
ENST00000476304.5:n.1681A>T
ENST00000490084.5:c.1413A>T
NM_001206855.1:c.1547A>T	NP_001193784.1:p.Lys516Met
NM_003227.3:c.2060A>T	NP_003218.2:p.Lys687Met
XM_005250553.3:c.2060A>T	XP_005250610.1:p.Lys687Met
XM_005250554.3:c.2060A>T	XP_005250611.1:p.Lys687Met
XR_927814.1:n.433+4285T>A
NM_001206855.2:c.1547A>T	NP_001193784.1:p.Lys516Met
XM_005250553.4:c.2060A>T	XP_005250610.1:p.Lys687Met
XM_017012573.1:c.2060A>T	XP_016868062.1:p.Lys687Met
NM_003227.4:c.2060A>T MANE Select	NP_003218.2:p.Lys687Met
NM_001206855.3:c.1547A>T	NP_001193784.1:p.Lys516Met