Canonical Allele Identifier: CA368526132

Gene: TFR2

Linked Data

• MyVariant Identifiers: chr7:g.100225276G>T (hg19) ; chr7:g.100627653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627653G>T , CM000669.2:g.100627653G>T	GRCh38
NC_000007.13:g.100225276G>T , CM000669.1:g.100225276G>T	GRCh37
NC_000007.12:g.100063212G>T	NCBI36
NG_007989.1:g.18898C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1691C>A MANE Select	ENSP00000223051.3:p.Pro564His
ENST00000223051.7:c.1691C>A	ENSP00000223051.3:p.Pro564His
ENST00000431692.5:c.*366C>A	ENSP00000413905.1:n.*366C>A
ENST00000462090.5:n.642C>A
ENST00000462107.1:c.1691C>A	ENSP00000420525.1:p.Pro564His
ENST00000465294.5:n.1526C>A
ENST00000473374.5:n.764C>A
ENST00000473963.1:n.720C>A
ENST00000476304.5:n.1312C>A
ENST00000490084.5:c.1044C>A
NM_001206855.1:c.1178C>A	NP_001193784.1:p.Pro393His
NM_003227.3:c.1691C>A	NP_003218.2:p.Pro564His
XM_005250553.3:c.1691C>A	XP_005250610.1:p.Pro564His
XM_005250554.3:c.1691C>A	XP_005250611.1:p.Pro564His
XR_927814.1:n.434-3503G>T
NM_001206855.2:c.1178C>A	NP_001193784.1:p.Pro393His
XM_005250553.4:c.1691C>A	XP_005250610.1:p.Pro564His
XM_017012573.1:c.1691C>A	XP_016868062.1:p.Pro564His
NM_003227.4:c.1691C>A MANE Select	NP_003218.2:p.Pro564His
NM_001206855.3:c.1178C>A	NP_001193784.1:p.Pro393His