Canonical Allele Identifier: CA2832592548
Community Standard Title: NM_003227.4(TFR2):c.2374G= (p.Gly792=)
Gene: TFR2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003227.4:c.2374G= MANE Select NP_003218.2:p.Gly792=
ENST00000223051.8:c.2374G= MANE Select ENSP00000223051.3:p.Gly792=
NM_001206855.1:c.1861G= NP_001193784.1:p.Gly621=
NM_001206855.2:c.1861G= NP_001193784.1:p.Gly621=
NM_001206855.3:c.1861G= NP_001193784.1:p.Gly621=
NM_003227.3:c.2374G= NP_003218.2:p.Gly792=
ENST00000223051.7:c.2374G= ENSP00000223051.3:p.Gly792=
ENST00000431692.5:c.*1049G= ENSP00000413905.1:n.*1049G=
ENST00000462090.5:n.1410G=
ENST00000462107.1:c.2374G= ENSP00000420525.1:p.Gly792=
ENST00000465294.5:n.2294G=
ENST00000476304.5:n.1995G=
ENST00000490084.5:c.1727G=
XM_005250553.3:c.2374G= XP_005250610.1:p.Gly792=
XM_005250553.4:c.2374G= XP_005250610.1:p.Gly792=
XM_017012573.1:c.2374G= XP_016868062.1:p.Gly792=