Canonical Allele Identifier: CA163275741

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100626798G>A , CM000669.2:g.100626798G>A	GRCh38
NC_000007.13:g.100224421G>A , CM000669.1:g.100224421G>A	GRCh37
NC_000007.12:g.100062357G>A	NCBI36
NG_007989.1:g.19753C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.2101C>T MANE Select	NP_003218.2:p.Arg701Ter
ENST00000223051.8:c.2101C>T MANE Select	ENSP00000223051.3:p.Arg701Ter
NM_001206855.1:c.1588C>T	NP_001193784.1:p.Arg530Ter
NM_001206855.2:c.1588C>T	NP_001193784.1:p.Arg530Ter
NM_001206855.3:c.1588C>T	NP_001193784.1:p.Arg530Ter
NM_003227.3:c.2101C>T	NP_003218.2:p.Arg701Ter
ENST00000223051.7:c.2101C>T	ENSP00000223051.3:p.Arg701Ter
ENST00000431692.5:c.*776C>T	ENSP00000413905.1:n.*776C>T
ENST00000461176.1:n.447C>T
ENST00000462090.5:n.1137C>T
ENST00000462107.1:c.2101C>T	ENSP00000420525.1:p.Arg701Ter
ENST00000465294.5:n.2021C>T
ENST00000476304.5:n.1722C>T
ENST00000490084.5:c.1454C>T
XM_005250553.3:c.2101C>T	XP_005250610.1:p.Arg701Ter
XM_005250553.4:c.2101C>T	XP_005250610.1:p.Arg701Ter
XM_005250554.3:c.2101C>T	XP_005250611.1:p.Arg701Ter
XM_017012573.1:c.2101C>T	XP_016868062.1:p.Arg701Ter
XR_927814.1:n.433+4244G>A