Canonical Allele Identifier: CA2832592549
Gene: TFR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100633515A= , CM000669.2:g.100633515A= GRCh38
NC_000007.13:g.100231138A= , CM000669.1:g.100231138A= GRCh37
NC_000007.12:g.100069074A= NCBI36
NG_007989.1:g.13036T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000223051.8:c.515T= MANE Select ENSP00000223051.3:p.Met172=
ENST00000223051.7:c.515T= ENSP00000223051.3:p.Met172=
ENST00000431692.5:c.515T= ENSP00000413905.1:p.Met172=
ENST00000462107.1:c.515T= ENSP00000420525.1:p.Met172=
ENST00000465294.5:n.520T=
ENST00000475011.1:n.44T=
ENST00000476304.5:n.136T=
NM_001206855.1:c.2T= NP_001193784.1:p.Met1=
NM_003227.3:c.515T= NP_003218.2:p.Met172=
XM_005250553.3:c.515T= XP_005250610.1:p.Met172=
XM_005250554.3:c.515T= XP_005250611.1:p.Met172=
NM_001206855.2:c.2T= NP_001193784.1:p.Met1=
XM_005250553.4:c.515T= XP_005250610.1:p.Met172=
XM_017012573.1:c.515T= XP_016868062.1:p.Met172=
NM_003227.4:c.515T= MANE Select NP_003218.2:p.Met172=
NM_001206855.3:c.2T= NP_001193784.1:p.Met1=