Canonical Allele Identifier: CA368521254

Gene: TFR2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100620889C>G , CM000669.2:g.100620889C>G	GRCh38
NC_000007.13:g.100218512C>G , CM000669.1:g.100218512C>G	GRCh37
NC_000007.12:g.100056448C>G	NCBI36
NG_007989.1:g.25662G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003227.4:c.2374G>C MANE Select	NP_003218.2:p.Gly792Arg
ENST00000223051.8:c.2374G>C MANE Select	ENSP00000223051.3:p.Gly792Arg
NM_001206855.1:c.1861G>C	NP_001193784.1:p.Gly621Arg
NM_001206855.2:c.1861G>C	NP_001193784.1:p.Gly621Arg
NM_001206855.3:c.1861G>C	NP_001193784.1:p.Gly621Arg
NM_003227.3:c.2374G>C	NP_003218.2:p.Gly792Arg
ENST00000223051.7:c.2374G>C	ENSP00000223051.3:p.Gly792Arg
ENST00000431692.5:c.*1049G>C	ENSP00000413905.1:n.*1049G>C
ENST00000462090.5:n.1410G>C
ENST00000462107.1:c.2374G>C	ENSP00000420525.1:p.Gly792Arg
ENST00000465294.5:n.2294G>C
ENST00000476304.5:n.1995G>C
ENST00000490084.5:c.1727G>C
XM_005250553.3:c.2374G>C	XP_005250610.1:p.Gly792Arg
XM_005250553.4:c.2374G>C	XP_005250610.1:p.Gly792Arg
XM_017012573.1:c.2374G>C	XP_016868062.1:p.Gly792Arg