Canonical Allele Identifier: CA456894506

Gene: TFR2

Linked Data

• COSMIC: COSM6027438
• MyVariant Identifiers: chr7:g.100225254G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627631G>T , CM000669.2:g.100627631G>T	GRCh38
NC_000007.13:g.100225254G>T , CM000669.1:g.100225254G>T	GRCh37
NC_000007.12:g.100063190G>T	NCBI36
NG_007989.1:g.18920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1713C>A MANE Select	ENSP00000223051.3:p.Ala571=
ENST00000223051.7:c.1713C>A	ENSP00000223051.3:p.Ala571=
ENST00000431692.5:c.*388C>A	ENSP00000413905.1:n.*388C>A
ENST00000462090.5:n.664C>A
ENST00000462107.1:c.1713C>A	ENSP00000420525.1:p.Ala571=
ENST00000465294.5:n.1548C>A
ENST00000473374.5:n.786C>A
ENST00000473963.1:n.742C>A
ENST00000476304.5:n.1334C>A
ENST00000490084.5:c.1066C>A
NM_001206855.1:c.1200C>A	NP_001193784.1:p.Ala400=
NM_003227.3:c.1713C>A	NP_003218.2:p.Ala571=
XM_005250553.3:c.1713C>A	XP_005250610.1:p.Ala571=
XM_005250554.3:c.1713C>A	XP_005250611.1:p.Ala571=
XR_927814.1:n.434-3525G>T
NM_001206855.2:c.1200C>A	NP_001193784.1:p.Ala400=
XM_005250553.4:c.1713C>A	XP_005250610.1:p.Ala571=
XM_017012573.1:c.1713C>A	XP_016868062.1:p.Ala571=
NM_003227.4:c.1713C>A MANE Select	NP_003218.2:p.Ala571=
NM_001206855.3:c.1200C>A	NP_001193784.1:p.Ala400=